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
TMEM242_chr6_157284025_157328519	157312638	A A	AATCACCT others(95): Show AATCACCTAGCCTCATCATAGTGCGCCAGTGTCCGCTCACCTAGCCTCAT CAAAGTGTCCCATTGTGTGCTCACCTAGCCTCATCACAGTGCCCCAGTCG GCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	300	0.0033	102	c.327 others(119): Show c.327+6143_327+6144insCGCCGACTGGGGCACTGTGATGAGGCTA GGTGAGCACACAATGGGACACTTTGATGAGGCTAGGTGAGCGGACACTGG CGCACTATGATGAGGCTAGGTGAT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313182	G G	GCTCACCT others(95): Show GCTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGCCTCAA CATAGTGCCCCAGCGTGCGTTGACCTGGCCTCATTATAGTGCCCCAGTGT GCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0270 a0001c0001t0018g0270	1	342	0.0029	102	c.327 others(119): Show c.327+5599_327+5600insTGCACACTGGGGCACTATAATGAGGCCA GGTCAACGCACGCTGGGGCACTATGTTGAGGCTAGGTGAGTGCACACTGG GGCACTATGATGAGGCTAGGTGAG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313232	C C	CATAGCGT others(95): Show CATAGCGTTCCAGTGTGCGCTCACGTAGCCTCATCATAGTGCCCCAGTGT ACACTCACCCGGCCTCATCATAGTTTCCCAGTGTGCGCTCACCCGGCCTC ATG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	338	0.0030	102	c.327 others(119): Show c.327+5549_327+5550insCATGAGGCCGGGTGAGCGCACACTGGGA AACTATGATGAGGCCGGGTGAGTGTACACTGGGGCACTATGATGAGGCTA CGTGAGCGCACACTGGAACGCTAT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313232	C C	CATAGCGT others(95): Show CATAGCGTTCCAGTGTGCGCTCACGTAGCCTCATCATAGTGCCCCAGTGT ACACTCACGCGGCCTCATCATAGTTTCCCAGTGTGCGCTCACCCGGCCTC ATG	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA20905.hp2 HG02132.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0180 a0001c0001t0001g0116 a0001c0001t0001g0180	2	339	0.0059	102	c.327 others(119): Show c.327+5549_327+5550insCATGAGGCCGGGTGAGCGCACACTGGGA AACTATGATGAGGCCGCGTGAGTGTACACTGGGGCACTATGATGAGGCTA CGTGAGCGCACACTGGAACGCTAT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM52_chr1_1912591_1924279	1924223	G G	GACCACCC others(95): Show GACCACCCCCCAGCTCACAGCCCACCCCACCATCTCACCGCCCAGCCCCC CATCTCACCAGCTGCCCCCTCCCCGGCACACCGCCCACCCCCCCATCTCA CCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	67	0.0149	102	c.-49 others(113): Show c.-4959_-4958insTGGTGAGATGGGGGGGTGGGCGGTGTGCCGGGGA GGGGGCAGCTGGTGAGATGGGGGGCTGGGCGGTGAGATGGTGGGGTGGGC TGTGAGCTGGGGGGTGGT	TMEM52	ENSG00000178821.13	transcript	ENST00000310991.8	protein_coding		4945		chr1	TogoVar
TMEM52_chr1_1912591_1924279	1924223	G G	GACCACCC others(95): Show GACCACCCCCCAGCTCACAGCCCACCCCCCCATCTCACCGCCCAGCCCCC CATCTCACCAGCTGCCCCCTCCCCGACACACCGCCCACCCCCCCATCTCA CCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	67	0.0149	102	c.-49 others(113): Show c.-4959_-4958insTGGTGAGATGGGGGGGTGGGCGGTGTGTCGGGGA GGGGGCAGCTGGTGAGATGGGGGGCTGGGCGGTGAGATGGGGGGGTGGGC TGTGAGCTGGGGGGTGGT	TMEM52	ENSG00000178821.13	transcript	ENST00000310991.8	protein_coding		4945		chr1	TogoVar
TNK2_chr3_195858364_195913551	195881393	G G	GTGCCCCT others(95): Show GTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCGCCCCCAG CGATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCCCCCAG CAA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0287 a0004c0007t0001g0287	1	342	0.0029	102	c.887 others(117): Show c.887+657_887+658insTTGCTGGGGGGGTGTTACAGGGATAGATGC TGTGTCCTCTCCAAGGGGCATCGCTGGGGGCGGGTGTTACAGGGATAGAT GCTGTGTCCTCTCCAAGGGGCA	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195881478	C C	CTAACACC others(95): Show CTAACACCCCCCCCAGCAACGCCCCTTGGAGAGGACACGGCATCTATCCC TGTAACACCCCCCCCAGCAATGCCCCTTGGAGAGGACACGGCATCTATCC CTG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	358	0.0028	102	c.887 others(117): Show c.887+572_887+573insCAGGGATAGATGCCGTGTCCTCTCCAAGGG GCATTGCTGGGGGGGGTGTTACAGGGATAGATGCCGTGTCCTCTCCAAGG GGCGTTGCTGGGGGGGGTGTTA	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TNNT3_chr11_1914703_1943702	1942138	T T	TGGGAGGG others(95): Show TGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAG GGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGGAGGAAGGTGGGGGGGGGA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA19065.hp2 HG00673.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0005 a0001c0001t0001g0026	2	31	0.0645	102	c.36 others(113): Show c.3646_*3647insGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGG GGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGGAGG AAGGTGGGGGGGGGAGGG	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding		3437		chr11	TogoVar
TPCN1_chr12_113216464_113303585	113286417	T T	TTGGGCCG others(95): Show TTGGGCCGCGAGGGTGAGCGGGTTAACACGCAGAGTGGGCCGCGAGGGTG AGCGGGTTAACACGCAGAGTGGGCCGCGAGGGTGAGCGGGTTAACACGCA GAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(66): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG01168.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG06807.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp2 NA18969.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19012.hp2 NA19043.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0003t0008 a0001c0004t0002 a0001c0012t0001	a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 others(63): Show a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0013g0030 a0001c0001t0015g0211 a0001c0001t0016g0003 a0001c0001t0018g0124 a0001c0001t0021g0053 a0001c0001t0022g0005 a0001c0003t0008g0200 a0001c0003t0008g0226 a0001c0003t0008g0227 a0001c0004t0002g0022 a0001c0004t0002g0033 a0001c0004t0002g0034 a0001c0012t0001g0201	69	243	0.2840	102	c.152 others(119): Show c.1526+490_1526+491insTGGGCCGCGAGGGTGAGCGGGTTAACAC GCAGAGTGGGCCGCGAGGGTGAGCGGGTTAACACGCAGAGTGGGCCGCGA GGGTGAGCGGGTTAACACGCAGAG	TPCN1	ENSG00000186815.13	transcript	ENST00000335509.11	protein_coding	18/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
TPCN1_chr12_113216464_113303585	113286417	T T	TTGGGCCG others(95): Show TTGGGCCGCGAGGGTGAGCGGGTTAACACGCAGAGTGGGCCGCGAGGGTG AGCGGGTTAACATGCAGAGTGGGCCGCGAGGGTGAGCGGGTTAACACGCA GAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	175	0.0057	102	c.152 others(119): Show c.1526+490_1526+491insTGGGCCGCGAGGGTGAGCGGGTTAACAT GCAGAGTGGGCCGCGAGGGTGAGCGGGTTAACACGCAGAGTGGGCCGCGA GGGTGAGCGGGTTAACACGCAGAG	TPCN1	ENSG00000186815.13	transcript	ENST00000335509.11	protein_coding	18/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
TPCN2_chr11_69043932_69095597	69077269	T T	TCCTGCCC others(95): Show TCCTGCCCTCTTCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCT CCACCTGCCCTCCTGCTGTGTCCCTTCACCTGCCCTCCTGCCATGTCCCT CCA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0230 a0002c0002t0001g0230	1	391	0.0026	102	c.123 others(121): Show c.1231-1204_1231-1203insTTCTGCCATGTCCCTCCACCTGCCCT CCTGCCGTGTCCCTCCACCTGCCCTCCTGCTGTGTCCCTTCACCTGCCCT CCTGCCATGTCCCTCCACCTGCCCTC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPO_chr2_1408463_1548673	1536817	C C	CCAACTGT others(95): Show CCAACTGTTTGCAACCTCCCAAATCCCCCCCAATGTGAGCAACCTCGCAA ATCCCCCTGTGTGCAACCTCAAATCCCCCCACTGTGTGCAACGTCCTCAA ATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0127 a0002c0002t0003g0127	1	128	0.0078	102	c.261 others(121): Show c.2619-3776_2619-3775insAACTGTTTGCAACCTCCCAAATCCCC CCCAATGTGAGCAACCTCGCAAATCCCCCTGTGTGCAACCTCAAATCCCC CCACTGTGTGCAACGTCCTCAAATAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPPP_chr5_654862_698352	691622	A A	ACCCCATC others(95): Show ACCCCATCAAAACAGCAGCCCCCAACCCCCATCAAAACAGCAGCCCCCAA ATACCCATCAAAACAGCAGCCCCCAAATACCCATCAAAACAATAGCCCCC AAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	405	0.0025	102	c.-5+ others(117): Show c.-5+1655_-5+1656insGTTGGGGGCTATTGTTTTGATGGGTATTTG GGGGCTGCTGTTTTGATGGGTATTTGGGGGCTGCTGTTTTGATGGGGGTT GGGGGCTGCTGTTTTGATGGGG	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPRG1_chr3_189166971_189330304	189312132	T T	TCTCTTCC others(95): Show TCTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTT TCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTC TTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0209 a0001c0001t0009g0209	1	286	0.0035	102	c.633 others(119): Show c.633+1595_633+1596insCTTCCTTTCTTCCTTTCTTCCTTTCTTC CTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCT TTCTTCCTTTCTTCCTTTCTTCCT	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPRG1_chr3_189166971_189330304	189312144	T T	TCTCTTCC others(95): Show TCTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTT TCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTC TTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	283	0.0035	102	c.633 others(119): Show c.633+1607_633+1608insCTTCCTTTCTTCCTTTCTTCCTTTCTTC CTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCT TTCTTCCTTTCTTCCTTTCTTCCT	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPR_chr1_186306652_186380253	186327266	A A	ATATATTT others(95): Show ATATATTTATATATATAATATATATAAATATATTATATATTTATATATAT AATATATATAAATATATAATATATATATTTATATATAATATATATAAATA TAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	320	0.0031	102	c.588 others(119): Show c.5889+193_5889+194insATATATTTATATATATTATATATAAATA TATATATTATATATTTATATATATTATATATATAAATATATAATATATTT ATATATATTATATATATAAATATA	TPR	ENSG00000047410.14	transcript	ENST00000367478.9	protein_coding	40/50			chr1	TogoVar
TRAPPC9_chr8_139722725_140462744	140156961	T T	TTTTCCAT others(95): Show TTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTTCCATT CAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCT CCC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0090 a0001c0004t0010g0090	1	85	0.0118	102	c.255 others(123): Show c.2556+64497_2556+64498insGGGAGGCTTTTGAATGGAAAAGGG AGGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTCTG AATGGAAAGGGAGGCTTCTGAATGGAAA	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140157147	T T	TTTCCATT others(95): Show TTTCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATT CAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCT CCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0096 a0001c0018t0001g0096	1	92	0.0109	102	c.255 others(123): Show c.2556+64311_2556+64312insGGGAGGCTTTTGAATGGAAAAGGG AGGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTCTG AATGGAAAAGGGAGGCTTTTGAATGGAA	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140157168	T T	TTTTCCAT others(95): Show TTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCATT CAGAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCT CCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	93	0.0108	102	c.255 others(123): Show c.2556+64290_2556+64291insGGGAGGCTTTTGAATGGAAAAGGG AGGCTTTTGAATGGAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTTTG AATGGAAAGGGAGGCTTTTGAATGGAAA	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140157305	A A	AAAGCCTC others(95): Show AAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCC TTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCATT CAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	55	0.0182	102	c.255 others(123): Show c.2556+64153_2556+64154insCTGAATGGAAAAGGGAGGCTTTTG AATGGAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAG GGAGGCTTTTGAATGGAAAGGGAGGCTT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRIM48_chr11_55257155_55276114	55273204	A A	ATATATAT others(95): Show ATATATATATATAAATTATATATATATTATATATATATAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATAAAAATTATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01943.hp1 HG01123.hp2 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	263	0.0076	102	c.27 others(113): Show c.2769_*2770insTATATATATATAAATTATATATATATTATATATA TATAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TAAAAATTATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2091		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273206	A A	ATATATAT others(95): Show ATATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATATAAATTATATATATATTATATATATAAAAATTATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	246	0.0041	102	c.27 others(113): Show c.2771_*2772insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATATAAATTATATATATATTATATATA TAAAAATTATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2093		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273206	A A	ATATATAT others(95): Show ATATATATAAAAATTATATATATATTATATATATATAAATTATATATATA TTATATATATATAAATTATATATATATTATATATATAAAAATTATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG01168.hp2 others(7): Show HG00280.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG02735.hp2 HG03688.hp1 NA18906.hp2 NA18943.hp1 NA19056.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0001 a0001c0001t0001g0019	10	255	0.0392	102	c.27 others(113): Show c.2771_*2772insTATATATAAAAATTATATATATATTATATATATA TAAATTATATATATATTATATATATATAAATTATATATATATTATATATA TAAAAATTATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2093		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273206	A A	ATATATAT others(95): Show ATATATATAAAAATTATATATATATTATATATATATAAATTATATATATA TTATATATATATAGATTATATATATATTATATATATAAAAATTATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	246	0.0041	102	c.27 others(113): Show c.2771_*2772insTATATATAAAAATTATATATATATTATATATATA TAAATTATATATATATTATATATATATAGATTATATATATATTATATATA TAAAAATTATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2093		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273241	T T	TAAATTAT others(95): Show TAAATTATATATATATTATATATATATAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATAAAAATTATATATATATTATATATA TAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	216	0.0046	102	c.28 others(113): Show c.2806_*2807insAAATTATATATATATTATATATATATAAATTATA TATATATTATATATATAAAAATTATATATATATTATATATAAAAATTATA TATATATTATATATATAA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2128		chr11	TogoVar
TRIM49D2_chr11_89919064_89938063	89935311	T T	TAATATAC others(95): Show TAATATACAAATATTTATATTTCATATAAAATATAAATATACAAATATTT ATATTTCATATAAAATATAAATATACAAATATTTATATTTCATATAAAAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG01243.hp1 HG02109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0064 a0003c0004t0002g0065 a0003c0004t0002g0064 a0003c0004t0002g0065	2	250	0.0080	102	c.24 others(113): Show c.2426_*2427insAATATACAAATATTTATATTTCATATAAAATATA AATATACAAATATTTATATTTCATATAAAATATAAATATACAAATATTTA TATTTCATATAAAATATA	TRIM49D2	ENSG00000233802.8	transcript	ENST00000623787.3	protein_coding		2249		chr11	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(95): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0126 a0001c0011t0001g0126	1	133	0.0075	102	c.204 others(123): Show c.2046+10512_2046+10613dupCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347169	C C	CTGGACCA others(95): Show CTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGAT GCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGA TGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03579.hp1 others(1): Show HG02280.hp1 HG02572.hp2 HG03579.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0011 a0002c0039 a0001c0005 a0001c0011 a0002c0039	a0001c0005t0002 a0001c0011t0001 a0002c0039t0003 a0001c0005t0002 a0001c0011t0001 a0002c0039t0003	a0001c0005t0002g0186 a0001c0005t0002g0187 a0001c0011t0001g0099 others(1): Show a0001c0005t0002g0186 a0001c0005t0002g0187 a0001c0011t0001g0099 a0002c0039t0003g0188	4	195	0.0205	102	c.204 others(123): Show c.2046+10543_2046+10544insATGGACCAGTCATCTCAGGCGGAC CTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGA CCTGAGGTCCTGCAGAACAGAGATGATG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347322	C C	CTGGACCA others(95): Show CTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGA TGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0002 a0001c0031t0002	a0001c0031t0002g0031 a0001c0031t0002g0031	1	161	0.0062	102	c.204 others(123): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACA GAGATGATGATGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRMT12_chr8_124445820_124458026	124455068	A A	ATATATAT others(95): Show ATATATATATTCATATATAATATATATTCATATATTATATATATTCATAT ATAATATATATTCATATATTATATATATTCATATATAATATATATTCATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03540.hp1 NA20129.hp2 HG03453.hp1 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0000 a0001c0002t0004g0000	3	372	0.0081	102	c.27 others(113): Show c.2794_*2795insTATATATATTCATATATAATATATATTCATATAT TATATATATTCATATATAATATATATTCATATATTATATATATTCATATA TAATATATATTCATATAT	TRMT12	ENSG00000183665.5	transcript	ENST00000328599.4	protein_coding		2043		chr8	TogoVar
TRPC1_chr3_142719034_142812888	142784320	T T	TTAATACT others(95): Show TTAATACTTATAGTTAATATAAGTATTATATTATATATATATATATAACT TATAACTATAAGTTAATATAGTTAATATAATAGTTAATACTTATAATACT CTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp1 HG02897.hp1 others(4): Show HG01891.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0011 a0001c0003t0001 a0001c0003t0006 a0001c0003t0011	a0001c0003t0001g0005 a0001c0003t0001g0275 a0001c0003t0006g0237 others(2): Show a0001c0003t0001g0005 a0001c0003t0001g0275 a0001c0003t0006g0237 a0001c0003t0006g0241 a0001c0003t0011g0247	7	309	0.0227	102	c.961 others(117): Show c.961-372_961-371insTTAATATAAGTATTATATTATATATATATA TATAACTTATAACTATAAGTTAATATAGTTAATATAATAGTTAATACTTA TAATACTCTATAATACTTATAG	TRPC1	ENSG00000144935.17	transcript	ENST00000476941.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(95): Show TATACTATTATATCATCATATGATGATATACTATTATATCATCATATGAT GATATGATACTATTATATCATCATATGATGATATGATACTATATCATCAT ATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19043.hp1 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0065 a0001c0001t0019 a0001c0001t0065	a0001c0001t0019g0149 a0001c0001t0065g0065 a0001c0001t0019g0149 a0001c0001t0065g0065	2	142	0.0141	102	c.41- others(119): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATATCATCATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL7_chr1_83860024_84004132	83892328	G G	GTATATAT others(95): Show GTATATATGAATATATATACGAATATATATGAATATATATGTATATATGA ATATATATACGAATATATATGAATATATATGTATATATGAATATATATAC GAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01358.hp1 HG01255.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0252 a0001c0001t0002g0182 a0001c0001t0002g0252	2	203	0.0099	102	c.220 others(121): Show c.2209-1848_2209-1847insTTCGTATATATATTCATATATACATA TATATTCATATATATTCGTATATATATTCATATATACATATATATTCATA TATATTCGTATATATATTCATATATA	TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20			chr1	TogoVar
TUBB8B_chr18_42221_54615	49110	A A	AGAAGGAC others(95): Show AGAAGGACGGGGGTCGCACCGCTGGCCTCGTGGTGGTACACGTTGGGTGG GAGAAGGACGGGGGTCTCACCGCTGGCCTCGTGGTGGTGCACGTTGGGTG GGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0054 a0003c0004t0001g0054	1	107	0.0093	102	c.166 others(115): Show c.166+18_166+19insCCCCACCCAACGTGCACCACCACGAGGCCAGC GGTGAGACCCCCGTCCTTCTCCCACCCAACGTGTACCACCACGAGGCCAG CGGTGCGACCCCCGTCCTTC	TUBB8B	ENSG00000173213.11	transcript	ENST00000308911.9	protein_coding	2/3			chr18	TogoVar
TUBB8B_chr18_42221_54615	49110	A A	AGAAGGAC others(95): Show AGAAGGACGGGGGTCGCACCGCTGGCCTCGTGGTGGTACACGTTGGGTGG GAGAAGGACGGGGGTCTCACCGTTGGCCTCGTGGTGGTGCACGTTGGGTG GGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	107	0.0093	102	c.166 others(115): Show c.166+18_166+19insCCCCACCCAACGTGCACCACCACGAGGCCAAC GGTGAGACCCCCGTCCTTCTCCCACCCAACGTGTACCACCACGAGGCCAG CGGTGCGACCCCCGTCCTTC	TUBB8B	ENSG00000173213.11	transcript	ENST00000308911.9	protein_coding	2/3			chr18	TogoVar
TUBB8B_chr18_42221_54615	49110	A A	AGAAGGAC others(95): Show AGAAGGACGGGGGTCTCACCGCTGGCCTCGTGGTGGTACACGTTGGGTGG GAGAAGGACGGGGGTCTCACCGCTGGCCTCGTGGTGGTGCACGTTGGGTG GGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(183): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0005 others(13): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0016 a0017 a0018 a0019 a0020 a0021	a0001c0001 a0001c0017 a0001c0025 others(17): Show a0001c0001 a0001c0017 a0001c0025 a0001c0027 a0001c0029 a0003c0004 a0005c0005 a0006c0008 a0007c0011 a0008c0012 a0009c0013 a0010c0015 a0011c0019 a0013c0018 a0016c0026 a0017c0031 a0018c0028 a0019c0030 a0020c0024 a0021c0032	a0001c0001t0001 a0001c0001t0004 a0001c0017t0001 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0017t0001 a0001c0025t0001 a0001c0027t0001 a0001c0029t0001 a0003c0004t0001 a0003c0004t0002 a0005c0005t0001 a0006c0008t0001 a0007c0011t0001 a0008c0012t0001 a0009c0013t0001 a0010c0015t0001 a0011c0019t0001 a0013c0018t0001 a0016c0026t0001 a0017c0031t0001 a0018c0028t0001 a0019c0030t0001 a0020c0024t0001 a0021c0032t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0004g0046 a0001c0017t0001g0026 a0001c0025t0001g0044 a0001c0027t0001g0047 a0001c0029t0001g0049 a0003c0004t0001g0025 a0003c0004t0002g0065 a0005c0005t0001g0005 a0006c0008t0001g0010 a0007c0011t0001g0019 a0008c0012t0001g0020 a0009c0013t0001g0050 a0010c0015t0001g0022 a0011c0019t0001g0029 a0013c0018t0001g0028 a0016c0026t0001g0045 a0017c0031t0001g0033 a0018c0028t0001g0048 a0019c0030t0001g0056 a0020c0024t0001g0043 a0021c0032t0001g0053	186	292	0.6370	102	c.166 others(115): Show c.166+18_166+19insCCCCACCCAACGTGCACCACCACGAGGCCAGC GGTGAGACCCCCGTCCTTCTCCCACCCAACGTGTACCACCACGAGGCCAG CGGTGAGACCCCCGTCCTTC	TUBB8B	ENSG00000173213.11	transcript	ENST00000308911.9	protein_coding	2/3			chr18	TogoVar
TUBB8B_chr18_42221_54615	49110	A A	AGAAGGAC others(95): Show AGAAGGACGGGGGTCTCACCGCTGGCCTCGTGGTGGTACACGTTGGGTGG GAGAAGGACGGGGGTCTCACCGTTGGCCTCGTGGTGGTGCACGTTGGGTG GGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(85): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02698.hp1 HG03017.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0014 others(2): Show a0001c0002 a0001c0010 a0001c0014 a0001c0022 a0001c0023	a0001c0002t0001 a0001c0010t0001 a0001c0014t0001 others(2): Show a0001c0002t0001 a0001c0010t0001 a0001c0014t0001 a0001c0022t0001 a0001c0023t0001	a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0038 others(4): Show a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0038 a0001c0010t0001g0017 a0001c0014t0001g0018 a0001c0022t0001g0036 a0001c0023t0001g0037	88	194	0.4536	102	c.166 others(115): Show c.166+18_166+19insCCCCACCCAACGTGCACCACCACGAGGCCAAC GGTGAGACCCCCGTCCTTCTCCCACCCAACGTGTACCACCACGAGGCCAG CGGTGAGACCCCCGTCCTTC	TUBB8B	ENSG00000173213.11	transcript	ENST00000308911.9	protein_coding	2/3			chr18	TogoVar
TUBB8B_chr18_42221_54615	49110	A A	AGAAGGAC others(95): Show AGAAGGACGGGTGTCTCACCGCTGGCCTCGTGGTGGTACACGTTGGGTGG GAGAAGGACGGGGGTCTCACCGCTGGCCTCGTGGTGGTGCACGTTGGGTG GGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	107	0.0093	102	c.166 others(115): Show c.166+18_166+19insCCCCACCCAACGTGCACCACCACGAGGCCAGC GGTGAGACCCCCGTCCTTCTCCCACCCAACGTGTACCACCACGAGGCCAG CGGTGAGACACCCGTCCTTC	TUBB8B	ENSG00000173213.11	transcript	ENST00000308911.9	protein_coding	2/3			chr18	TogoVar
TUBB8B_chr18_42221_54615	49119	G G	GGGGTCTC others(95): Show GGGGTCTCACCGCTGGCCTCGTGGTGGTACACGTTGGGTGGGAGAAGGAC GGGGGTCTCACCGCTGGCCTCGTGGTGGTGCACGTTGGGTGGGGGAAGGA CGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	394	0.0025	102	c.166 others(114): Show c.166+9_166+10insTCGTCCTTCCCCCACCCAACGTGCACCACCACG AGGCCAGCGGTGAGACCCCCGTCCTTCTCCCACCCAACGTGTACCACCAC GAGGCCAGCGGTGAGACCC	TUBB8B	ENSG00000173213.11	transcript	ENST00000308911.9	protein_coding	2/3			chr18	TogoVar
TXNL4A_chr18_79965813_79993563	79988580	A A	ACGCCGTG others(95): Show ACGCCGTGCGTGCTGACGGCATGCGCGCGCGCTAGCGCCGTGCGTGCTGA CGGCATGCGCGCGCGCTAGCGCCGTGCGTGCTGACGGCATGCGCGCGCGC TAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	383	0.0026	102	c.-18 others(111): Show c.-189_-188insCTAGCGCGCGCGCATGCCGTCAGCACGCACGGCGCT AGCGCGCGCGCATGCCGTCAGCACGCACGGCGCTAGCGCGCGCGCATGCC GTCAGCACGCACGGCG	TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding		18		chr18	TogoVar
TYMS_chr18_652653_678578	667167	T T	TGATGGAG others(95): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGAGATGGTGATGGTG ATGGTGATGGAGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGAT GGA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	366	0.0027	102	c.455 others(119): Show c.455-1900_455-1899insAGATGGTGATGGTGATGGAGATGGTGAT GGAGATGGTGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGG TGATGGTGATGGTGATGGAGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UBE2J1_chr6_89321625_89357722	89339641	T T	TGGGGGAG others(95): Show TGGGGGAGGAGGGAAGGAGGGGGGGAGGAGGGAAGGAGGGGAGGGGGAAG GGGAGGGGAGGAGGGAAGGAGAGGGGAGGGGGGGAGGGGACGGGGAGGAG ACG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0277	1	2	0.5000	102	c.238 others(119): Show c.238-1099_238-1098insCGTCTCCTCCCCGTCCCCTCCCCCCCTC CCCTCTCCTTCCCTCCTCCCCTCCCCTTCCCCCTCCCCTCCTTCCCTCCT CCCCCCCTCCTTCCCTCCTCCCCC	UBE2J1	ENSG00000198833.7	transcript	ENST00000435041.3	protein_coding	3/7			chr6	TogoVar
UBE2J1_chr6_89321625_89357722	89339641	T T	TGGGGGAG others(95): Show TGGGGGAGGAGGGAAGGAGGGGGGGGAGGAGGGAAGGAGGGGAGGGGGAA GGGGAGGGGAGGAGGGAAGGAGAGGGGAGGGGGGGAGGGGACGGGGAGGA GAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	2	0.5000	102	c.238 others(119): Show c.238-1099_238-1098insGTCTCCTCCCCGTCCCCTCCCCCCCTCC CCTCTCCTTCCCTCCTCCCCTCCCCTTCCCCCTCCCCTCCTTCCCTCCTC CCCCCCCTCCTTCCCTCCTCCCCC	UBE2J1	ENSG00000198833.7	transcript	ENST00000435041.3	protein_coding	3/7			chr6	TogoVar
ULK1_chr12_131889622_131928150	131917306	G G	GTTCGGCT others(95): Show GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCT CGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0130 a0002c0008t0004g0131 a0002c0008t0004g0130 a0002c0008t0004g0131	2	290	0.0069	102	c.218 others(119): Show c.2183-105_2183-104insTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTC	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
UNC13A_chr19_17596336_17693354	17631034	C C	CTCTCTGA others(95): Show CTCTCTGAGTCCTCCATCCATCCTTCCCTCCCTCCCTCCCTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTCAGATAAACTGCCCATGGCAAGTGGGTT TAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0017 a0001c0002t0012g0017	1	317	0.0032	102	c.342 others(119): Show c.3429-285_3429-284insATAAACCCACTTGCCATGGGCAGTTTAT CTGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGG AAGGATGGATGGAGGACTCAGAGA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17631034	C C	CTCTCTGA others(95): Show CTCTCTGAGTCCTCCGTCCATCCTTCCCTCCCTCCCTCCCTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTCAGATAAACTGCCCATGGCAAGTGGGTT TAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0020 a0001c0011t0020	a0001c0011t0020g0035 a0001c0011t0020g0035	1	317	0.0032	102	c.342 others(119): Show c.3429-386_3429-285dupATAAACCCACTTGCCATGGGCAGTTTAT CTGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGG AAGGATGGACGGAGGACTCAGAGA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
USH2A_chr1_215617891_216428448	216050576	C C	CCTTTCCT others(95): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0065 a0065	a0065c0006 a0065c0006	a0065c0006t0014 a0065c0006t0014	a0065c0006t0014g0007 a0065c0006t0014g0007	1	68	0.0147	102	c.605 others(121): Show c.6050-1930_6050-1929insAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAG	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	30/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216116075	T T	TTTATAGA others(95): Show TTTATAGAAACACAGAGTAAGTAATGATAAAAATTCATTTGTATTAAAAA TTGAATGCCATTTAATGACATTGAATTATGAATTGTAGAAATCTACATAA AGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0038 a0038	a0038c0022 a0038c0022	a0038c0022t0001 a0038c0022t0001	a0038c0022t0001g0002 a0038c0022t0001g0002	1	72	0.0139	102	c.462 others(123): Show c.4628-18863_4628-18862insCCTTTATGTAGATTTCTACAATTC ATAATTCAATGTCATTAAATGGCATTCAATTTTTAATACAAATGAATTTT TATCATTACTTACTCTGTGTTTCTATAA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	21/71			chr1	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(95): Show ATATATATATACATATATATATATACATATATATATATACATATATATAT ATATACATATATATATATATACATATATATATATATATATATATATATTT TTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	116	0.0086	102	c.84- others(117): Show c.84-1281_84-1280insATATATATACATATATATATATACATATAT ATATATACATATATATATATATACATATATATATATATACATATATATAT ATATATATATATATATTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar

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