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
OR6J1_chr14_22625929_22649352	22637752	CTGGCCAG others(114): Show CTGGCCAGCCGCCCCGTTCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGCGGGGGGGGTGGGGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0183 a0002c0002t0004g0183	1	362	0.0028	-121	c.-27 others(17): Show c.-27-3035_-27-2915del	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
P2RY8_chrX_1457581_1542185	1514422	CTTCCTTT others(114): Show CTTCCTTTCCCTTCTCTTCCCTTCCCTTCCCTCCCTTCCCCTCCTTTTCC TTTCCTTTTCCTTTTCCTTTCCCTTCCCTCCCTTCCCTTCCCTTTCCTCC CCTCCCTTCCCTTCCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00733.hp1 others(14): Show HG00099.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp2 HG01175.hp1 HG01258.hp1 HG02056.hp1 HG02451.hp2 HG02486.hp2 HG03516.hp1 NA18906.hp2 NA18961.hp1 NA18966.hp1 NA18971.hp1 NA19056.hp1 NA20129.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0025 a0001c0001t0033 a0001c0003t0012 a0002c0002t0004 a0002c0005t0006 a0009c0008t0005	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0055 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0002g0060 a0001c0001t0008g0061 a0001c0001t0025g0110 a0001c0001t0033g0113 a0001c0003t0012g0001 a0002c0002t0004g0008 a0002c0005t0006g0058 a0009c0008t0005g0051	17	114	0.1491	-121	c.-25 others(19): Show c.-25+22378_-25+22498del	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PARP10_chr8_143972158_143991460	143978849	GGAACATC others(114): Show GGAACATCTTCAGATACACAAGATCCGTGAAATGCCAAGAAGGACAATGA GGAAAGACAACGCCCCTGGCACCCACGTGCCAGGAAACCTCAACCTTCAG AGTGAAAGAAAACCCTGCAAGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0212 a0002c0002t0003g0212	1	380	0.0026	-121	c.255 others(17): Show c.2557-889_2557-769del	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PDZRN4_chr12_41183320_41579745	41402289	ATATATAT others(114): Show ATATATATATACACACAGTGTGTATATATATATACACACACTGTGTGTAT ATATATATATACACACAGTGTGTATATATATATATACACACACTGTGTAT ATATATATATACACACAGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03486.hp2 HG03540.hp1 others(2): Show HG01175.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0036 a0001c0001 a0002c0002 a0004c0036	a0001c0001t0001 a0002c0002t0001 a0004c0036t0001 a0001c0001t0001 a0002c0002t0001 a0004c0036t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0002c0002t0001g0181 a0004c0036t0001g0007	5	206	0.0243	-121	c.844 others(21): Show c.844-104156_844-104036del	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKP_chr10_3062548_3141802	3085000	CCCAGCAC others(114): Show CCCAGCACGGTCCCCCACTCCCTCCCCAGCACGGTCCCCCACTCCCTCCC CAGCACGGTCCCCCACTCCCTCCCCAGCACGGTCCCCCACTCCCTCCCCA GCACGGTCCGCCACTCCACTCT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0090 a0001c0004t0003g0090	1	402	0.0025	-121	c.186 others(17): Show c.186+2547_186+2667del	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PKP3_chr11_389209_409908	401431	CCCGCTCA others(114): Show CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCCGCTCACCCCCGGCCCCGTTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACCCCCGG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0201 a0001c0004t0001g0201	1	216	0.0046	-121	c.173 others(17): Show c.1737+729_1737+849del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIBP1_chr12_27519206_27700564	27558475	CACACACA others(114): Show CACACACACACACACACACACGATATTCTATATAGATCAAGAAATGTCTT ACTTCTTTGTGGGCATTGGGGAAAATAGTTTAGGTATATATACTCTTCCT TCCTGCCCCCACCTCTCCACCA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00609.hp2 others(17): Show HG00438.hp2 HG00558.hp2 HG00609.hp2 HG01109.hp2 NA18747.hp2 NA18939.hp1 NA18945.hp1 NA18959.hp2 NA18973.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19006.hp2 NA19007.hp1 NA19055.hp1 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0002	a0001c0001t0001g0040 a0001c0001t0001g0088 a0001c0001t0001g0096 others(17): Show a0001c0001t0001g0040 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0188 a0001c0001t0002g0041 a0001c0001t0002g0106 a0001c0001t0002g0128 a0001c0001t0003g0042 a0001c0001t0003g0097 a0001c0001t0003g0103 a0001c0001t0007g0016 a0001c0001t0021g0104 a0001c0002t0001g0105 a0001c0002t0002g0099 a0001c0002t0003g0076 a0002c0003t0002g0089 a0002c0003t0002g0192	20	314	0.0637	-121	c.-12 others(21): Show c.-123-19656_-123-19536del	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPP6R2_chr22_50338327_50450090	50345419	CCCCCCAG others(114): Show CCCCCCAGTCAGTTTCCCTCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTC CAGTCAGTGCCCCCTCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCTCCAG TCAGTTCCCCCCAGTCAGTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02055.hp1 others(36): Show HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0013 others(2): Show a0001 a0002 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0016 a0001c0018 a0001c0033 a0002c0004 a0013c0028 a0014c0035 a0015c0036	a0001c0001t0001 a0001c0001t0026 a0001c0002t0003 others(13): Show a0001c0001t0001 a0001c0001t0026 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0015 a0001c0002t0016 a0001c0003t0008 a0001c0008t0004 a0001c0016t0011 a0001c0018t0004 a0001c0033t0003 a0002c0004t0012 a0013c0028t0011 a0014c0035t0011 a0015c0036t0015	a0001c0001t0001g0295 a0001c0001t0026g0289 a0001c0002t0003g0285 others(36): Show a0001c0001t0001g0295 a0001c0001t0026g0289 a0001c0002t0003g0285 a0001c0002t0004g0282 a0001c0002t0004g0323 a0001c0002t0004g0324 a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0328 a0001c0002t0004g0331 a0001c0002t0004g0332 a0001c0002t0004g0333 a0001c0002t0004g0334 a0001c0002t0011g0277 a0001c0002t0011g0278 a0001c0002t0011g0279 a0001c0002t0011g0298 a0001c0002t0015g0296 a0001c0002t0015g0337 a0001c0002t0016g0281 a0001c0002t0016g0284 a0001c0003t0008g0293 a0001c0003t0008g0300 a0001c0003t0008g0305 a0001c0008t0004g0288 a0001c0008t0004g0290 a0001c0008t0004g0291 a0001c0008t0004g0297 a0001c0008t0004g0299 a0001c0008t0004g0302 a0001c0008t0004g0304 a0001c0016t0011g0280 a0001c0016t0011g0286 a0001c0018t0004g0327 a0001c0033t0003g0329 a0002c0004t0012g0303 a0013c0028t0011g0283 a0014c0035t0011g0287 a0015c0036t0015g0336	39	340	0.1147	-121	c.-14 others(19): Show c.-148+1981_-148+2101del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM16_chr1_3064203_3443621	3146915	GGGGGGTG others(114): Show GGGGGGTGTGTGTGCACGTGTGTGCTCAGTGTGGGGGGTATGTGTGCACG TGTGCTCGGTGTGGGGTGTGTGTGCATGTGTGTGCTTGGTGTGGGGGGTA TGCGCACGTGTGTGCTCGGTGT	G G	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp2 NA19085.hp1 NA19067.hp1 NA19067.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0001 a0001c0001t0033 a0001c0002t0001	a0001c0001t0033g0197 a0001c0002t0001g0114 a0001c0002t0001g0210 a0001c0001t0033g0197 a0001c0002t0001g0114 a0001c0002t0001g0210	3	210	0.0143	-121	c.38- others(17): Show c.38-39205_38-39085del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIPK1_chr6_3063494_3120187	3093995	TGCCGCAC others(114): Show TGCCGCACCTAGTAACTGCAGCGCGCCTACCTGCCGCACCTAGTAACTGC AGCGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTCCTGCA CCTAGTAACTGCAGAGTACCTA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0200 a0001c0003t0001g0200	1	340	0.0029	-121	c.915 others(17): Show c.915+4339_915+4459del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10			chr6	TogoVar
RPTOR_chr17_80539838_80971368	80665385	TTCCTTTC others(114): Show TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCATG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0061 a0001c0039t0061	a0001c0039t0061g0177 a0001c0039t0061g0177	1	196	0.0051	-121	c.348 others(19): Show c.348+21594_348+21714del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCUBE1_chr22_43192280_43348372	43280776	CCTGTCAT others(114): Show CCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCT GTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCT GTCACCTCCCTTGGCCACCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(3): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00544.hp1 HG01496.hp2 HG03688.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0002c0005 others(1): Show a0001c0003 a0002c0002 a0002c0005 a0003c0001	a0001c0003t0003 a0002c0002t0002 a0002c0005t0001 others(1): Show a0001c0003t0003 a0002c0002t0002 a0002c0005t0001 a0003c0001t0001	a0001c0003t0003g0141 a0002c0002t0002g0113 a0002c0005t0001g0139 others(3): Show a0001c0003t0003g0141 a0002c0002t0002g0113 a0002c0005t0001g0139 a0002c0005t0001g0191 a0003c0001t0001g0143 a0003c0001t0001g0207	6	280	0.0214	-121	c.484 others(19): Show c.484+10149_484+10269del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SIGIRR_chr11_400716_419999	401414	GCCCCGCT others(114): Show GCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGTT CACACCCGCCCCGCTCACACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	242	0.0041	-121	c.43 others(11): Show c.4361_*4481del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4301		chr11	TogoVar
SIGIRR_chr11_400716_419999	401431	CCCGCTCA others(114): Show CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCCGCTCACCCCCGGCCCCGTTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACCCCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0230 a0001c0004t0001g0230	1	242	0.0041	-121	c.43 others(11): Show c.4344_*4464del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4284		chr11	TogoVar
SLC2A5_chr1_9030106_9074635	9041392	GTCCCAGG others(114): Show GTCCCAGGCAGCAGCGTTGCTGGGAGGGTCCTATGAACTGATGCTGGGTC CGCCCCAAGCACAGAGCCTGGCACACTGGTGGCTGTCATTGCTATGCCAC GGGCCTCCATATGGACAGCTGC	G G	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	336	0.0030	-121	c.571 others(15): Show c.571+272_571+392del	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	5/11			chr1	TogoVar
SLC35G4_chr18_11604596_11615612	11613769	GCCACCCT others(114): Show GCCACCCTGTCTGGGAGGTGAGGAGCGCCTCTGCCTGGCCGCCCATCATC TGGGAGGTGAGGAGCACCTCTGCCCGGCCACCCATCGTCTGGTAGGTGAG GAGCGCCTCTGCCCGGCCGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(79): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp2 HG03704.hp1 HG03834.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18949.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18962.hp1 NA18966.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19065.hp1 NA19070.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0003 a0005 a0007 others(1): Show a0003 a0005 a0007 a0010	a0003c0003 a0005c0020 a0007c0008 others(1): Show a0003c0003 a0005c0020 a0007c0008 a0010c0011	a0003c0003t0001 a0005c0020t0001 a0007c0008t0001 others(1): Show a0003c0003t0001 a0005c0020t0001 a0007c0008t0001 a0010c0011t0001	a0003c0003t0001g0000 a0005c0020t0001g0000 a0007c0008t0001g0000 others(1): Show a0003c0003t0001g0000 a0005c0020t0001g0000 a0007c0008t0001g0000 a0010c0011t0001g0000	82	444	0.1847	-121	c.31 others(11): Show c.3158_*3278del	SLC35G4	ENSG00000236396.8	transcript	ENST00000588001.2	protein_coding		3158		chr18	TogoVar
SLC39A14_chr8_22362278_22427736	22396422	GAGAGAGA others(114): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGGGGGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0156 a0001c0005t0003g0156	1	324	0.0031	-121	c.-15 others(17): Show c.-15-8273_-15-8153del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396423	AGAGAGAG others(114): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGGGGGGGGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0153 a0001c0005t0003g0153	1	324	0.0031	-121	c.-15 others(17): Show c.-15-8272_-15-8152del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC7A1_chr13_29504414_29600688	29559351	AGGGGGAG others(114): Show AGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAG AATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTG AGGGGGAGTGAATGTGAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00673.hp2 others(61): Show HG00140.hp1 HG00544.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01192.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02155.hp2 HG02300.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG03017.hp1 HG03098.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18946.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18981.hp1 NA18991.hp2 NA19005.hp2 NA19007.hp2 NA19030.hp2 NA19057.hp2 NA19066.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0001t0024 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0005 a0001c0003t0010 a0001c0003t0033 a0001c0004t0006 a0001c0004t0011 a0001c0006t0001 a0001c0006t0029	a0001c0001t0001g0012 a0001c0001t0001g0065 a0001c0001t0001g0068 others(58): Show a0001c0001t0001g0012 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0204 a0001c0001t0001g0232 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0003g0067 a0001c0001t0003g0146 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0059 a0001c0001t0014g0264 a0001c0001t0024g0241 a0001c0001t0024g0269 a0001c0001t0035g0080 a0001c0001t0036g0134 a0001c0001t0037g0270 a0001c0002t0002g0083 a0001c0002t0004g0160 a0001c0003t0001g0070 a0001c0003t0005g0003 a0001c0003t0005g0072 a0001c0003t0005g0194 a0001c0003t0005g0195 a0001c0003t0005g0196 a0001c0003t0005g0198 a0001c0003t0005g0206 a0001c0003t0005g0208 a0001c0003t0005g0214 a0001c0003t0005g0217 a0001c0003t0005g0220 a0001c0003t0010g0209 a0001c0003t0010g0213 a0001c0003t0010g0215 a0001c0003t0033g0060 a0001c0004t0006g0086 a0001c0004t0006g0089 a0001c0004t0011g0090 a0001c0006t0001g0009 a0001c0006t0001g0244 a0001c0006t0001g0249 a0001c0006t0029g0046	64	330	0.1939	-121	c.-11 others(19): Show c.-114-5612_-114-5492del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559392	GGGGGAGA others(114): Show GGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGTG AGGGGGAGTGAATGTGAGTGAC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02015.hp1 HG01081.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0004 a0001c0001t0008 a0001c0002t0004	a0001c0001t0008g0044 a0001c0002t0004g0287 a0001c0001t0008g0044 a0001c0002t0004g0287	2	330	0.0061	-121	c.-11 others(19): Show c.-114-5653_-114-5533del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A3_chr5_465456_529449	505281	ACGGGGTG others(114): Show ACGGGGTGAAGAGTGACTGTAGGAGGGTGGGGAGTGACCACGGAGAGGGG AGAGTGACTGTAGGGGGGTGGGGAGTGACCATGGAAGGGGGAGAGTGACT GTTGGGGGGTGGGGAGTGACCG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02896.hp1 HG02896.hp2 others(1): Show HG02074.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0035 a0001c0001 a0001c0007 a0001c0035	a0001c0001t0001 a0001c0007t0001 a0001c0035t0004 a0001c0001t0001 a0001c0007t0001 a0001c0035t0004	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0007t0001g0158 others(1): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0007t0001g0158 a0001c0035t0004g0159	4	218	0.0184	-121	c.212 others(19): Show c.212-13331_212-13211del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLX9_chr21_44935029_44981973	44978582	GCGGGTGT others(114): Show GCGGGTGTGGGGCGCGTGTGGAACGTGTGTGGGGCGCGTGTGGAGCGGGT GTGGGGCGGGTGTGGGGCGCGTGTGGGGCGGGTGTGGGGCGCGTGTGGGG CGGGTGTGGGGCACGTGTGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG03453.hp1 HG03834.hp1 others(2): Show HG01361.hp1 HG03453.hp1 HG03834.hp1 NA18959.hp2 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0002 a0002c0002t0001g0215 a0002c0002t0001g0232 others(2): Show a0002c0002t0001g0002 a0002c0002t0001g0215 a0002c0002t0001g0232 a0004c0004t0001g0221 a0004c0004t0001g0225	5	334	0.0150	-121	c.17 others(11): Show c.1780_*1900del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1610		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978618	CGTGTGGA others(114): Show CGTGTGGAGCGGGTGTGGGGCGGGTGTGGGGCGCGTGTGGGGCGGGTGTG GGGCGCGTGTGGGGCGGGTGTGGGGCACGTGTGGAACGTGTGTGGAACGT GTGTGGGGCGCGTGTGGGGCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG01884.hp1 HG02630.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0230 a0003c0003t0001g0142 a0002c0002t0001g0230 a0003c0003t0001g0142	2	334	0.0060	-121	c.18 others(11): Show c.1816_*1936del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1646		chr21	TogoVar
SORCS2_chr4_7187538_7747827	7676835	CTCCACCC others(114): Show CTCCACCCCAGCCCTGTCATCTCCTCCTTCCTCTCCCTCTCTGTGTCTGA AGTTGGCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTC TCTCCCTCTCTCCCTCTGCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(46): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01070.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01934.hp2 HG01952.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02622.hp1 HG02922.hp2 HG03017.hp2 HG03195.hp2 HG03209.hp1 HG03688.hp1 HG03710.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA19000.hp1 NA19066.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0017 a0001c0026 a0001c0033 a0001c0036 a0001c0047 a0001c0049 a0001c0051 a0002c0004 a0003c0013 a0005c0020 a0006c0008 a0007c0027 a0009c0035	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(41): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0041 a0001c0002t0053 a0001c0002t0065 a0001c0002t0067 a0001c0003t0001 a0001c0003t0008 a0001c0003t0010 a0001c0003t0015 a0001c0003t0016 a0001c0006t0017 a0001c0006t0066 a0001c0009t0001 a0001c0009t0029 a0001c0010t0076 a0001c0011t0060 a0001c0014t0019 a0001c0017t0005 a0001c0017t0016 a0001c0026t0062 a0001c0033t0009 a0001c0036t0044 a0001c0047t0071 a0001c0049t0001 a0001c0051t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0008 a0002c0004t0014 a0002c0004t0056 a0003c0013t0021 a0005c0020t0020 a0006c0008t0001 a0006c0008t0013 a0007c0027t0002 a0009c0035t0028	a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0005g0067 others(46): Show a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0005g0067 a0001c0001t0006g0111 a0001c0001t0009g0014 a0001c0001t0009g0085 a0001c0002t0001g0087 a0001c0002t0001g0143 a0001c0002t0002g0062 a0001c0002t0002g0133 a0001c0002t0007g0008 a0001c0002t0041g0096 a0001c0002t0053g0082 a0001c0002t0065g0004 a0001c0002t0067g0115 a0001c0003t0001g0081 a0001c0003t0008g0135 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0015g0140 a0001c0003t0016g0091 a0001c0006t0017g0117 a0001c0006t0066g0084 a0001c0009t0001g0151 a0001c0009t0029g0038 a0001c0010t0076g0163 a0001c0011t0060g0107 a0001c0014t0019g0139 a0001c0017t0005g0056 a0001c0017t0016g0124 a0001c0026t0062g0049 a0001c0033t0009g0093 a0001c0036t0044g0022 a0001c0047t0071g0051 a0001c0049t0001g0059 a0001c0051t0001g0068 a0002c0004t0002g0013 a0002c0004t0003g0012 a0002c0004t0003g0095 a0002c0004t0006g0136 a0002c0004t0008g0060 a0002c0004t0014g0110 a0002c0004t0056g0134 a0003c0013t0021g0100 a0005c0020t0020g0037 a0006c0008t0001g0006 a0006c0008t0013g0155 a0007c0027t0002g0116 a0009c0035t0028g0152	49	168	0.2917	-121	c.134 others(17): Show c.1341+607_1341+727del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26			chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2332999	GGGCGGCT others(114): Show GGGCGGCTGGACTGGGCTCTGCTGGGAGGGGGAGCAGGAGGAGGGTGGGG ATGGCAGGTGTGGGCGGCTGGACTAGACTCTGCTGGGAGGGGAGCAGGAG GAGGGTGGGGATGGCAGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp2 HG00738.hp1 others(29): Show HG00544.hp2 HG00733.hp2 HG00738.hp1 HG01074.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01981.hp2 HG02055.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG03239.hp2 HG03516.hp2 HG03704.hp1 HG04115.hp2 HG06807.hp1 NA18954.hp1 NA18968.hp1 NA18973.hp1 NA18989.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0015t0028 a0001c0001t0002 a0001c0015t0028	a0001c0001t0002g0019 a0001c0001t0002g0044 a0001c0001t0002g0045 others(24): Show a0001c0001t0002g0019 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0229 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0015t0028g0019	32	414	0.0773	-121	c.67- others(15): Show c.67-1543_67-1423del	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
STON1_chr2_48525154_48603513	48564481	TTCTTCTT others(114): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCT CCTCCTCCTCCTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp2 HG02071.hp2 others(7): Show HG01346.hp1 HG01346.hp2 HG02071.hp2 HG02109.hp2 HG02451.hp1 HG02698.hp2 HG02735.hp2 HG04115.hp1 NA19002.hp2 NA21309.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0005 a0011c0026 a0002c0002 a0002c0005 a0011c0026	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0020 a0002c0005t0001 a0002c0005t0004 a0011c0026t0004	a0002c0002t0001g0006 a0002c0002t0001g0202 a0002c0002t0002g0070 others(7): Show a0002c0002t0001g0006 a0002c0002t0001g0202 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0004g0302 a0002c0002t0020g0209 a0002c0005t0001g0117 a0002c0005t0004g0276 a0002c0005t0004g0277 a0011c0026t0004g0367	10	376	0.0266	-121	c.-47 others(19): Show c.-47-16105_-47-15985del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3			chr2	TogoVar
STRA8_chr7_135228838_135263663	135262483	AAAAAAAA others(114): Show AAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGACAGAGGTGGAAAGAGTT TTAGCAGAGAGAGCCTTGTGCTTGGGAAAGGGTTCCTTCCTGCCAGGCGG CACTGAGGATCCCGTGAAGTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0131 a0001c0001t0005g0131	1	416	0.0024	-121	c.39 others(11): Show c.3992_*4112del	STRA8	ENSG00000146857.5	transcript	ENST00000662584.2	protein_coding		3821		chr7	TogoVar
TAF13_chr1_109059140_109081003	109071958	ATATATAT others(114): Show ATATATATATATATATATACACACATATATATATATATATATATATATAT ATATATACACACACATATATATATATATATATATATACACACACATATAT ATATATATATATATATATACAC	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02129.hp1 HG02074.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	414	0.0048	-121	c.106 others(17): Show c.106+2908_106+3028del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TARS3_chr15_101648596_101729473	101692316	TTCTCTCC others(114): Show TTCTCTCCTCCACGGCTCCAAGCTCTCTGTGGGTTCTGGTATTACTACTC CATCTCCTCACTTCTCTCCTCCACGGCTCCAAGCTCTCTGTGGGTTCTGG TATTACTACTCCATCTCCTCAC	T T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0188 a0002c0002t0005g0188	1	278	0.0036	-121	c.132 others(19): Show c.1321-6375_1321-6255del	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	10/18			chr15	TogoVar
TERT_chr5_1248167_1300068	1272940	CTGTGACC others(114): Show CTGTGACCGATCGCCATCCAGTCACCACACATCAGACCCCCGGGACCAAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCTGTGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18995.hp1 NA20905.hp2 HG01891.hp2 NA18995.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0038 a0001c0001 a0001c0038	a0001c0001t0001 a0001c0038t0001 a0001c0001t0001 a0001c0038t0001	a0001c0001t0001g0115 a0001c0001t0001g0136 a0001c0038t0001g0384 a0001c0001t0001g0115 a0001c0001t0001g0136 a0001c0038t0001g0384	3	392	0.0077	-121	c.228 others(17): Show c.2287-781_2287-661del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1284952	AGACCTGC others(114): Show AGACCTGCACCATCCAGACACCACACATCCAGCTCACAGCAGGGCCTGGC GACCTCACCCCGGACCTGCATCATCCGGACTCCATACCTCCAGCTCACCG AGGGCCTGGAGACCTCACCCCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(111): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01884.hp2 HG01934.hp2 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG03195.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18980.hp1 NA18986.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19065.hp2 NA19074.hp2 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0014 a0015	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0001c0015 a0001c0018 a0001c0023 a0001c0036 a0002c0033 a0002c0034 a0003c0016 a0003c0017 a0003c0029 a0005c0031 a0014c0021 a0015c0035	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0014t0002 a0001c0015t0001 a0001c0018t0001 a0001c0023t0001 a0001c0036t0001 a0002c0033t0001 a0002c0034t0001 a0003c0016t0001 a0003c0017t0001 a0003c0029t0001 a0005c0031t0002 a0014c0021t0001 a0015c0035t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(111): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0312 a0001c0001t0001g0343 a0001c0001t0001g0362 a0001c0001t0001g0367 a0001c0001t0002g0196 a0001c0001t0002g0201 a0001c0001t0002g0369 a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0107 a0001c0002t0002g0094 a0001c0003t0001g0110 a0001c0003t0001g0178 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0314 a0001c0004t0001g0023 a0001c0004t0001g0027 a0001c0004t0001g0030 a0001c0004t0001g0043 a0001c0004t0001g0049 a0001c0004t0001g0066 a0001c0004t0001g0073 a0001c0004t0001g0076 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0014t0002g0104 a0001c0015t0001g0096 a0001c0018t0001g0108 a0001c0023t0001g0336 a0001c0036t0001g0382 a0002c0033t0001g0378 a0002c0034t0001g0377 a0003c0016t0001g0095 a0003c0017t0001g0031 a0003c0029t0001g0177 a0005c0031t0002g0375 a0014c0021t0001g0184 a0015c0035t0001g0381	114	392	0.2908	-121	c.157 others(19): Show c.1574-2449_1574-2329del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TESC_chr12_117033923_117104416	117075864	TATATATG others(114): Show TATATATGTGTGTATATATATATATATATATATATATATATATATATATA TGTGTGTGTGTATATATATATATATATGTATATATACATATATATATATA TATGTATGTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02080.hp2 HG02055.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0283 a0001c0001t0001g0201 a0001c0001t0001g0283	2	312	0.0064	-121	c.59- others(13): Show c.59-645_59-525del	TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7			chr12	TogoVar
TFDP2_chr3_141939428_142154544	141969087	ATAACATA others(114): Show ATAACATATATATATATCTCATATATATGAGATATATATATAACATATAT ATCCCATATATATGAGATATATATATAACATATATATATATCTCATATAT ATGAGATATATATATATAACAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG02615.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0027 a0001c0001t0018 a0001c0001t0027	a0001c0001t0018g0032 a0001c0001t0027g0034 a0001c0001t0018g0032 a0001c0001t0027g0034	2	252	0.0079	-121	c.732 others(15): Show c.732+865_732+985del	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	141969130	CATATATA others(114): Show CATATATATCCCATATATATGAGATATATATATAACATATATATATATCT CATATATATGAGATATATATATATAACATATATATATATCTCATATATAT GAGATATATATATATATAACAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG03225.hp1 others(1): Show HG01109.hp1 HG01243.hp2 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0073 a0001c0001t0100 others(1): Show a0001c0001t0038 a0001c0001t0073 a0001c0001t0100 a0001c0001t0128	a0001c0001t0038g0013 a0001c0001t0073g0237 a0001c0001t0100g0040 others(1): Show a0001c0001t0038g0013 a0001c0001t0073g0237 a0001c0001t0100g0040 a0001c0001t0128g0241	4	252	0.0159	-121	c.732 others(15): Show c.732+822_732+942del	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
THBS3_chr1_155190588_155212897	155191277	GCTTGGGG others(114): Show GCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGT GACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCG AGGGCCGAGGTGACATCGTAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01081.hp1 HG01123.hp1 others(30): Show HG00621.hp1 HG01081.hp1 HG01123.hp1 HG01891.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02895.hp1 HG03017.hp1 HG03492.hp1 HG04199.hp2 NA18942.hp2 NA18944.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18978.hp1 NA18983.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA19000.hp2 NA19060.hp2 NA19062.hp1 NA19084.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0018 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0002c0002t0001g0003	33	298	0.1107	-121	c.44 others(11): Show c.4443_*4563del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4310		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191345	CGCGGTGG others(114): Show CGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCGAGGGCCGAGGTGACATCG TAGACTGCGGGCGCGGTGGAGCCCGGGTCCGGCCTGCTCTCCGAGGCCGA GGTGACACCGTAGACTGGGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18993.hp1 NA18979.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0002 a0001c0001t0001g0025	2	298	0.0067	-121	c.43 others(11): Show c.4375_*4495del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4242		chr1	TogoVar
TMEM163_chr2_134450759_134724000	134607865	GACAGACC others(114): Show GACAGACCCCGAGAACTGTACTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0116 a0001c0001t0005g0116	1	222	0.0045	-121	c.323 others(19): Show c.323-55895_323-55775del	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134608206	GACAGACC others(114): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	222	0.0045	-121	c.323 others(19): Show c.323-56236_323-56116del	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TNNI3K_chr1_74230387_74549428	74289484	GTGTCATT others(114): Show GTGTCATTAGTCTTTTAGGTCTGCATGCCTCTCTCTATGACTTTTCCCAA TCTTTGTTTTAATCAATAATCTTGTCTCCAGTCTAACATGGGAATTGTGC TCTCTGGCATAAAATGGGCTAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(187): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18980.hp1 NA18980.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0003 a0002c0002 others(9): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0005 a0005c0006 a0006c0008 a0007c0012 a0008c0010 a0009c0011 a0010c0007 a0011c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0003c0004t0001 a0004c0005t0001 a0005c0006t0001 a0006c0008t0002 a0007c0012t0001 a0008c0010t0001 a0009c0011t0001 a0010c0007t0001 a0011c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(187): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0002g0068 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0003g0038 a0001c0001t0003g0052 a0001c0001t0004g0190 a0001c0001t0005g0179 a0001c0001t0006g0040 a0001c0001t0007g0154 a0001c0003t0001g0006 a0001c0003t0001g0041 a0001c0003t0002g0181 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0146 a0002c0002t0001g0159 a0003c0004t0001g0011 a0003c0004t0001g0039 a0004c0005t0001g0127 a0004c0005t0001g0139 a0005c0006t0001g0112 a0006c0008t0002g0162 a0007c0012t0001g0005 a0008c0010t0001g0156 a0009c0011t0001g0174 a0010c0007t0001g0110 a0011c0009t0002g0106	190	194	0.9794	-121	c.444 others(19): Show c.444+17779_444+17899del	TNNI3K	ENSG00000116783.15	transcript	ENST00000326637.8	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPO_chr2_1408463_1548673	1522245	TGCCCGCC others(114): Show TGCCCGCCACCGTGCCCTCACAGTCTCTCTACCCCACACCGGCCCTGCCA CCTTGCCCTCACAGTCTCTCTACCCCACACCTGCCTGCCACCGTGCCCTC ACAGACTCTCTACCCCACACCG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp2 others(37): Show HG00408.hp2 HG00423.hp1 HG00597.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01167.hp2 HG01192.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02080.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG03654.hp2 HG04204.hp2 NA18612.hp2 NA18962.hp2 NA18971.hp1 NA18985.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0008 a0016 a0020	a0001c0001 a0002c0002 a0002c0015 others(12): Show a0001c0001 a0002c0002 a0002c0015 a0003c0003 a0003c0006 a0004c0005 a0004c0007 a0004c0032 a0006c0021 a0006c0026 a0008c0011 a0008c0016 a0008c0028 a0016c0030 a0020c0024	a0001c0001t0003 a0001c0001t0005 a0002c0002t0003 others(18): Show a0001c0001t0003 a0001c0001t0005 a0002c0002t0003 a0002c0002t0006 a0002c0015t0003 a0002c0015t0004 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011 a0004c0005t0005 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0006c0021t0004 a0006c0026t0003 a0008c0011t0006 a0008c0016t0003 a0008c0028t0003 a0016c0030t0004 a0020c0024t0005	a0001c0001t0003g0077 a0001c0001t0003g0128 a0001c0001t0005g0073 others(36): Show a0001c0001t0003g0077 a0001c0001t0003g0128 a0001c0001t0005g0073 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0002t0003g0074 a0002c0002t0003g0095 a0002c0002t0006g0027 a0002c0015t0003g0111 a0002c0015t0004g0112 a0003c0003t0004g0016 a0003c0003t0004g0035 a0003c0003t0004g0051 a0003c0003t0005g0001 a0003c0003t0005g0043 a0003c0003t0005g0066 a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0100 a0003c0006t0004g0103 a0003c0006t0011g0085 a0004c0005t0005g0071 a0004c0007t0004g0109 a0004c0007t0004g0116 a0004c0007t0008g0049 a0004c0007t0008g0102 a0004c0032t0008g0108 a0006c0021t0004g0031 a0006c0026t0003g0052 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020 a0008c0028t0003g0003 a0016c0030t0004g0115 a0020c0024t0005g0009	40	130	0.3077	-121	c.261 others(19): Show c.2618+5303_2618+5423del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1533093	AATCTCTC others(114): Show AATCTCTCCACTGTGTGCAACCTCCCCAAATCCCCCACTGTGTGCAACGT CCCCAAATCCCCCCACTGTGAGCAACCTTCCCAAATCCCCCCACTGTGTG CAATCTCCCCATATCCCCCCAT	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0066 a0003c0003t0005g0066	1	130	0.0077	-121	c.261 others(19): Show c.2619-7497_2619-7377del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRERF1_chr6_42219931_42456926	42262434	CAGAGAGA others(114): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0023 a0004c0013t0023	a0004c0013t0023g0161 a0004c0013t0023g0161	1	180	0.0056	-121	c.188 others(17): Show c.1884+765_1884+885del	TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17			chr6	TogoVar
TSPEAR_chr21_44492893_44716572	44503491	TCTGGGAG others(114): Show TCTGGGAGGAGGCCGGCCTTGGTGAGCCCTTGGGGGGAAGCCGGCCTTGG TGAGCCCACAGTGGGGAAGCAATGTGCTGGGAGGAAGCTGGCCTCGGTGA GCCCTCAGGGGGAAGCAAGGCG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	294	0.0034	-121	c.185 others(19): Show c.1856+1168_1856+1288del	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	11/11			chr21	TogoVar
TYMS_chr18_652653_678578	666920	GAGATGGT others(114): Show GAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGT GATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGA TGGAGATGGTGATGGAGATGGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp2 HG00323.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0120 a0001c0001t0001g0121	2	482	0.0042	-121	c.455 others(17): Show c.455-2151_455-2031del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6			chr18	TogoVar
UGT2B28_chr4_69275475_69300050	69295841	CTATTCCT others(114): Show CTATTCCTGAATTTCTTCACTTAGAATAATGCTCTCCCACTTCATGCAAG TTGCTGTTAATGCCATTAGTTTGTTTCTTTTTACAGCTTAGTAGTATTCC ATGGTATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00558.hp1 others(39): Show HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00741.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG02015.hp1 HG02027.hp1 HG02080.hp2 HG02132.hp1 HG02523.hp1 HG03927.hp2 HG04204.hp2 NA18942.hp1 NA18951.hp1 NA18955.hp2 NA18957.hp1 NA18967.hp2 NA18970.hp1 NA18973.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18992.hp1 NA18997.hp1 NA19006.hp1 NA19007.hp1 NA19058.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19080.hp1 NA19082.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20752.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0003c0004 a0011c0013 a0003c0003 a0003c0004 a0011c0013	a0003c0003t0001 a0003c0004t0001 a0011c0013t0001 a0003c0003t0001 a0003c0004t0001 a0011c0013t0001	a0003c0003t0001g0003 a0003c0003t0001g0020 a0003c0003t0001g0022 others(7): Show a0003c0003t0001g0003 a0003c0003t0001g0020 a0003c0003t0001g0022 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0045 a0003c0003t0001g0048 a0003c0004t0001g0008 a0003c0004t0001g0034 a0011c0013t0001g0003	42	259	0.1622	-121	c.10 others(11): Show c.1033_*1153del	UGT2B28	ENSG00000135226.18	transcript	ENST00000335568.10	protein_coding		792		chr4	TogoVar
UPK1B_chr3_119168598_119210143	119180618	TTTGTTCT others(114): Show TTTGTTCTTTCTCCGTGCCTATCCTCTATGGAAAGGTCAACAAATTCATA ATGTCTTTTTTTTTTTTTAAATATCCATTAGTGTGGAACTGTGTCAAAGC TTTTCTTTTTTAACCTAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	422	0.0024	-121	c.-28 others(17): Show c.-28-6095_-28-5975del	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7			chr3	TogoVar
USP7_chr16_8887097_8968906	8943285	GGTTTAAT others(114): Show GGTTTAATATACAGCACAAGTAAAGAGCTTATAATTACGCCTGTACTGCT TCTACATGTATAGTCTGCTCCGCAAAAGAAACAGGATTATCTGCTCAACT GTGCAGCACAATGCAAGTAGAA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0052	1	338	0.0030	-121	c.80- others(17): Show c.80-13009_80-12889del	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
VCX3B_chrX_8459830_8471510	8467074	GAGGGAGG others(114): Show GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGTGTGGGGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0060 a0060	a0060c0099 a0060c0099	a0060c0099t0040 a0060c0099t0040	a0060c0099t0040g0003 a0060c0099t0040g0003	1	271	0.0037	-121	c.69 others(9): Show c.692_*812del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		565		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11605045	CCCCCGCC others(114): Show CCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAA GCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATT CCATCTTCCAAAGCGCCCCACG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02486.hp1 HG02622.hp1 others(3): Show HG00140.hp1 HG02486.hp1 HG02622.hp1 HG03239.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0153 a0001c0001t0001g0191 a0001c0001t0001g0192 others(3): Show a0001c0001t0001g0153 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0009g0088	6	388	0.0155	-121	c.83- others(15): Show c.83-3144_83-3024del	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11605110	CCCCCCAC others(114): Show CCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCG CCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATC TTCCAAAGCGCCCCCACGCCCA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	388	0.0026	-121	c.83- others(15): Show c.83-3209_83-3089del	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar

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