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
SNED1_chr2_240993618_241100568	241011076	G G	GGGTCTCC others(218): Show GGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGG TGGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTG GGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGT GGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGG GTCTCCTGGGTCTCCTGGGGGTTGCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0011 a0002c0013t0011	a0002c0013t0011g0207 a0002c0013t0011g0207	1	344	0.0029	225	c.213 others(244): Show c.213+12090_213+12091insGTCTCCTGGGGGTGGCAGGTCTCCTG GGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCT CCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTGGCAG GTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTTGCAGGTCTCCTGGGTCTC CTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNED1_chr2_240993618_241100568	241011076	G G	GGGTCTCC others(218): Show GGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTC TCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTG GGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCT CCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGG GTCTCCTGGGTCTCCTGGGGGTTGCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp2 HG02647.hp1 others(2): Show HG01099.hp2 HG01891.hp2 HG02647.hp1 HG02717.hp2 HG03471.hp1	a0002 a0009 a0002 a0009	a0002c0010 a0002c0011 a0002c0013 others(1): Show a0002c0010 a0002c0011 a0002c0013 a0009c0031	a0002c0010t0044 a0002c0011t0011 a0002c0013t0011 others(2): Show a0002c0010t0044 a0002c0011t0011 a0002c0013t0011 a0002c0013t0015 a0009c0031t0036	a0002c0010t0044g0078 a0002c0011t0011g0234 a0002c0013t0011g0214 others(2): Show a0002c0010t0044g0078 a0002c0011t0011g0234 a0002c0013t0011g0214 a0002c0013t0015g0215 a0009c0031t0036g0027	5	344	0.0145	225	c.213 others(244): Show c.213+12073_213+12074insTCTCCTGGGGGTGGCAGGTCTCCTGG GTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTG GCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGG TCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTTG CAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNED1_chr2_240993618_241100568	241011238	A A	AGGTCTCC others(218): Show AGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTTGCAGGTCTCCTGGGTC TCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTG GGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGT GGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTTGCAGGTCTCCTGG GTCTCCTGGGGGTGGCAGGTCTCCTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0019 a0002c0010t0019	a0002c0010t0019g0195 a0002c0010t0019g0195	1	344	0.0029	225	c.213 others(244): Show c.213+12208_213+12209insTCTCCTGGGGGTTGCAGGTCTCCTGG GTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTC CTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGG GGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTTGCAGGTCTCC TGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1342818	C C	CCCCTGTT others(218): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTCACACTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0065 a0004c0004t0001g0065	1	190	0.0053	225	c.148 others(246): Show c.1489-24522_1489-24521insTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCA CGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCACACTTTTCC C	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343160	C C	CCCCTGTT others(218): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTCGCACTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0048 a0018c0023t0001g0048	1	190	0.0053	225	c.148 others(246): Show c.1489-24180_1489-24179insTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCA CGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCC C	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX8_chr7_2246770_2319441	2303061	A A	AGGTCAGC others(218): Show AGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGAGTGCC TCTGCCCAGCCGTCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCATCCAGGAGGGAGGTCAGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	370	0.0027	225	c.94+ others(242): Show c.94+11266_94+11267insCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCTGACCTCCCTCCTGGATGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGACGGCTGGGCAGAGG CACTCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SORCS2_chr4_7187538_7747827	7448850	C C	CCCTTCCT others(218): Show CCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCT TTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCT CTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTT CCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0094 a0001c0001t0057g0094	1	168	0.0060	225	c.548 others(244): Show c.548+52498_548+52499insTCCTCCCTCCCTTCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTT CCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTC CCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448870	C C	CTTTTCCC others(218): Show CTTTTCCCTCCCTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCTTT TCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCT TTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp1 NA19043.hp1 HG02258.hp1 HG02886.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0005 a0003c0013 a0001c0003 a0001c0005 a0003c0013	a0001c0003t0052 a0001c0005t0023 a0003c0013t0021 a0001c0003t0052 a0001c0005t0023 a0003c0013t0021	a0001c0003t0052g0147 a0001c0005t0023g0032 a0003c0013t0021g0100 a0001c0003t0052g0147 a0001c0005t0023g0032 a0003c0013t0021g0100	3	168	0.0179	225	c.548 others(244): Show c.548+52515_548+52516insTTTTCCCTCCCTCCCTCCCTCCCTTC CTCTCTTTTCCCTCTCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT CCTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTT TCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SP100_chr2_230411201_230550606	230499510	A A	ATAAATAT others(218): Show ATAAATATATATAGATAGATATATATTTTTATATATATATTTATATATAT AAATATATATATCTAGATATATATCTATCTATATATATTTATATATATAA ATATATATATTTATTTTTTTATATATAAAATATATATATTTATATATATA TTTTATATATATAGATATATATATCTATATATTTATTTCCTTTGGCTATG AATTCCCCCACTAGAATGGCAGAAGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0059 a0001c0001t0026g0059	1	290	0.0035	225	c.172 others(242): Show c.1720+975_1720+976insTAAATATATATAGATAGATATATATTTT TATATATATATTTATATATATAAATATATATATCTAGATATATATCTATC TATATATATTTATATATATAAATATATATATTTATTTTTTTATATATAAA ATATATATATTTATATATATATTTTATATATATAGATATATATATCTATA TATTTATTTCCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGC	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28			chr2	TogoVar
SPATA13_chr13_24155720_24312069	24189682	T T	TTATATAT others(218): Show TTATATATATAATATGTAATATATTATATATATTTATATATATGTAATAT ATTATATATATTTATATATATAATATGTAATATATTATATATATTTATAT ATATATGTAATATATTATATATATTTATATATATAATATGTAATATATTA TATATATTTATATATATAATATGTAATATATTATATATATTTATATATAT AATATGTAATATATTATATATAAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0093 a0001c0004t0093	a0001c0004t0093g0055 a0001c0004t0093g0055	1	356	0.0028	225	c.-11 others(246): Show c.-112+28758_-112+28759insTAATATGTAATATATTATATATAT TTATATATATGTAATATATTATATATATTTATATATATAATATGTAATAT ATTATATATATTTATATATATATGTAATATATTATATATATTTATATATA TAATATGTAATATATTATATATATTTATATATATAATATGTAATATATTA TATATATTTATATATATAATATGTAATATATTATATATAAAAGTATATAT A	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161017	G G	GGTGGGGG others(218): Show GGTGGGGGAGGTGGAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAAGG GGGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGAAGGGGAGGGGGA AGGGGGGAGGGGGAAGGGGAGGGGGAAGGGGGAGAGGGGAGGGGGAGGGG GGACGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGCGGGAC CGGGGGAGGGGAGAGGGGGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03688.hp2 HG02735.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0029 a0001c0003t0005g0030 a0001c0003t0005g0029 a0001c0003t0005g0030	2	251	0.0080	225	c.36 others(234): Show c.361_*362insTCCCCCTCCCCCTCTCCCCTCCCCCGGTCCCGCTTC CCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCGTCCCCCCTCCCCC TCCCCTCTCCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTTCCCCCTCCC CTTCCCCCTCCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCCTTCCCCCT CCCCCTTCCCCCTCCCCCTTCCCCCTCCACCTCCCCCAC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		142		chr21	TogoVar
STARD7_chr2_96179859_96213827	96197082	A A	AAAATAAA others(218): Show AAAATAAAATAAATAACATAACATAACATAACATAACATAACATAACATA ACATAACATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAAAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0231 a0002c0002t0002g0231	1	358	0.0028	225	c.291 others(242): Show c.291-1534_291-1533insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTTTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATGTTATGTTA TGTTATGTTATGTTATGTTATGTTATGTTATGTTATTTATTTTATTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STOML3_chr13_38960925_38995831	38988594	A A	ATATATTT others(218): Show ATATATTTTATATCATATATTTTATATATAATATATTTTATATCATATAT TTTATATATAATATATTTTATATCATATATTTTATATATAATATATTTTA TATCATATATTTTATATATAATATATTTTATATCATATATTTTATATATA ATATATTATATTTTATATCATATATTTTATATATAATATATTATATTTTA TATCATATATTTTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA19091.hp2 HG03491.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0253 a0001c0001t0001g0040 a0001c0001t0001g0253	2	396	0.0051	225	c.52+ others(240): Show c.52+2075_52+2076insATATATTATATATAAAATATATGATATAAA ATATAATATATTATATATAAAATATATGATATAAAATATAATATATTATA TATAAAATATATGATATAAAATATATTATATATAAAATATATGATATAAA ATATATTATATATAAAATATATGATATAAAATATATTATATATAAAATAT ATGATATAAAATATATTATATATAAAATATATGATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
SUGCT_chr7_40130005_40865763	40373288	C C	CAGAATCT others(218): Show CAGAATCTATAGATTCTAGAAAATTTAGAATCTATAGATTCTAGAAAATT TAGAATCTATAGATTCTAGAAAATTTAGAATCTATAGATTCTAGAAAATT TAGAATCTATAGATTCTAGAAAATTTAGAATCTATAGATTCTAGAAAATT TAGAATCTATAGATTCTAGAAAATTTAGAATCTATAGATTCTAGAAAATT TAGAATCTATAGATTCTAGAAAATTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	8	0.1250	225	c.816 others(244): Show c.816+56517_816+56518insAGATTCTAGAAAATTTAGAATCTATA GATTCTAGAAAATTTAGAATCTATAGATTCTAGAAAATTTAGAATCTATA GATTCTAGAAAATTTAGAATCTATAGATTCTAGAAAATTTAGAATCTATA GATTCTAGAAAATTTAGAATCTATAGATTCTAGAAAATTTAGAATCTATA GATTCTAGAAAATTTAGAATCTATAGATTCTAGAAAATTTAGAATCTAT	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
TACC2_chr10_121984163_122259542	122200401	G G	GCACCTCA others(218): Show GCACCTCACCTGCCCACAGTGGCTGTGTTCACATGGGGAGGACAGTTACC TCACCTGCCCACAGTGGCCACATCTACAGTGAGAGGACGGGCACCTCACC TGCCCACAGTGGCTGTGTTCACATGGGGAGGACAGTTACCTCACCTGCCC ACAGTGGCTGTGTTCACATGGGGAGGACGGCCACCTCACCTGCCCACAGT GGCCACATCTACAGTGAGAGGACGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0083 a0083	a0083c0108 a0083c0108	a0083c0108t0002 a0083c0108t0002	a0083c0108t0002g0169 a0083c0108t0002g0169	1	306	0.0033	225	c.597 others(244): Show c.5971+5384_5971+5385insTGTTCACATGGGGAGGACGGCCACCT CACCTGCCCACAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACCT GCCCACAGTGGCTGTGTTCACATGGGGAGGACAGTTACCTCACCTGCCCA CAGTGGCCACATCTACAGTGAGAGGACGGGCACCTCACCTGCCCACAGTG GCTGTGTTCACATGGGGAGGACAGTTACCTCACCTGCCCACAGTGGCTG	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
TBC1D2B_chr15_77989985_78082711	77992796	C C	CACTCCCC others(218): Show CACTCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCCCACTCCACTC CCCCCACTCCCCCCCACTCCCCCCCCACTCCCCCCCCACTCCACTCCCCC CCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCC ACTCCACTCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCC CCCACTCCCCCCACTCCCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	280	0.0036	225	c.53 others(236): Show c.5363_*5364insAGTGGGGGGGGAGTGGGGGGAGTGGGGGGAGTGG GGGGGAGTGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGG GAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGGGGGGAGT GGAGTGGGGGGGGAGTGGGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGAG TGGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGGGGGAGT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2188		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992796	C C	CACTCCCC others(218): Show CACTCCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCC ACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACT CCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCA CTCCACTCCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCACTCCCC CCCACTCCCCCCACTCCCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	280	0.0036	225	c.53 others(236): Show c.5363_*5364insAGTGGGGGGGGAGTGGGGGGAGTGGGGGGGAGTG GGGGGAGTGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGG GAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGG GGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGGGGGGA GTGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGGGGGGAGT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2188		chr15	TogoVar
TERT_chr5_1248167_1300068	1272940	C C	CACGACCG others(218): Show CACGACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCA CAACCGCCATCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCC CACGACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03704.hp1 HG03710.hp1 others(5): Show HG01192.hp2 HG03704.hp1 HG03710.hp1 NA18945.hp1 NA18969.hp1 NA18971.hp2 NA19009.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0268 a0001c0003t0001g0271 a0001c0003t0001g0289 others(5): Show a0001c0003t0001g0268 a0001c0003t0001g0271 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0296 a0001c0003t0001g0299 a0001c0003t0001g0335 a0001c0004t0001g0054	8	392	0.0204	225	c.228 others(242): Show c.2287-661_2287-660insTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTTGTG GGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEMIS_chr6_127703200_127906058	127746921	A A	ATTATTAT others(218): Show ATTATTATATAATTATATTATATATAATTATATATTATTATATAATTATA TTATATATAATTATATATTATTATATAATTATATTATATATAATTATATA TTATAATATAATTATATTATATATAATTATATATTATTATATAATTATAT TATATATAATTATATATTATTATATAATTATATTATATATAATTATATAT TATTATATAATTATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0022 a0002c0001t0001g0022	1	223	0.0045	225	c.175 others(246): Show c.1759-27099_1759-27098insATTATATATAATATAATTATATAA TAATATATAATTATATATAATATAATTATATAATAATATATAATTATATA TAATATAATTATATAATAATATATAATTATATATAATATAATTATATTAT AATATATAATTATATATAATATAATTATATAATAATATATAATTATATAT AATATAATTATATAATAATATATAATTATATATAATATAATTATATAATA A	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(218): Show CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACAC CCCTGTCCCCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0104 a0001c0002t0005g0104	1	388	0.0026	225	c.22 others(236): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TLN2_chr15_62385550_62849631	62825836	A A	ATTATAAT others(218): Show ATTATAATATATATTATATATTATATTATAATATATATTATATATTATAT TATAATATATATTATATATTATATTATAATATATATTATATATTATATTA TAATATATATTATATATTATATTATAATATATATTATATATTATATTATA ATATATATTATATATTATATTATAATATATATTATATATTATATTATAAT ATATATTATATATTATAATATATAAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02004.hp1 HG02056.hp2 HG01258.hp2 HG02004.hp1 HG02056.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0002 a0001c0007t0002 a0001c0004t0002 a0001c0007t0002	a0001c0004t0002g0123 a0001c0007t0002g0111 a0001c0007t0002g0137 a0001c0004t0002g0123 a0001c0007t0002g0111 a0001c0007t0002g0137	3	144	0.0208	225	c.700 others(244): Show c.7002+5226_7002+5227insTTATAATATATATTATATATTATATT ATAATATATATTATATATTATATTATAATATATATTATATATTATATTAT AATATATATTATATATTATATTATAATATATATTATATATTATATTATAA TATATATTATATATTATATTATAATATATATTATATATTATATTATAATA TATATTATATATTATATTATAATATATATTATATATTATAATATATAAT	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	54/58			chr15	TogoVar
TMCO3_chr13_113486021_113555229	113543148	G G	GCCCCACC others(218): Show GCCCCACCTCTGTCCGTGACCCCACCTGCTCCCCCTGCCCCCCGCCCTCC CTGTCCGTGACCACCTCCTCCCCCTGCTCCCCGCCCTCCCTCTGTCCGTG ACCCCACCTCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCC TCCCCCTGCCCCACCTCTGTCCGTGACCCCACCTCCTCCCCCTGCCCCCC GCCCTCCCTGTCCGTGACCACCTCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03471.hp1 HG00639.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0329 a0001c0001t0010g0330 a0001c0001t0010g0329 a0001c0001t0010g0330	2	368	0.0054	225	c.169 others(244): Show c.1690+3645_1690+3646insACCTCTGTCCGTGACCCCACCTGCTC CCCCTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCTCCC CGCCCTCCCTCTGTCCGTGACCCCACCTCCTCCCCCTGCCCCCCGCCCTC CCTGTCCGTGACCACCTCCTCCCCCTGCCCCACCTCTGTCCGTGACCCCA CCTCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM120A_chr7_75981831_75999595	75988765	A A	AGAAGGCC others(218): Show AGAAGGCCGGGTAGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGG GGAAGGCGGGGAGGGGGTGTGGAGGG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	368	0.0027	225	c.378 others(240): Show c.378-250_378-249insCCCTCCACACCCCCTCCCCGCCTTCCCCTC CACACCCCCTCCCCGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTC CACCCCCCCACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCCCTC CACCCCCCCACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCCCTC CACCCCCCCACCCGGCCTTCTCCTCCACCCCCCTACCCGGCCTTC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM178B_chr7_141069064_141485380	141337038	C C	CCATCATC others(218): Show CCATCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCATCACTACCACCACCATCACCACCACCACCATCATCACCACCACCAC CACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCATCACCACCACCACCATCATCACC ACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	80	0.0125	225	c.497 others(246): Show c.497-100568_497-100567insTCATCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCATCACTACCACCACCATCACCACC ACCACCATCATCACCACCACCACCACCACCACCACCACCATCACCACCAC CATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA TCACCACCACCACCATCATCACCACCACCACCACCACCACCACCACCATC A	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM51_chr1_15148747_15225478	15225218	G G	GGGGGAGG others(218): Show GGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGGGGAGGGAGGGGGAGG GGAGGGAGGGGGAGGGGACAGGAGGGAAGTGAGGGGGAGGGGATGTGAGG GGGGAGGGAGAGGGGAGGGGGAAGGGGAGGGTGAGGGAGGGGGAGGGGAG GGAGGGAGTGGGGGGAGGGAGTGGGGGAGGGGAGAGGGGGAGGGGAGGGA GTGGGGGAGAGGGGGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0016 a0001c0001t0014g0016	1	298	0.0034	225	c.54 others(236): Show c.5475_*5476insGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGG GGAGGGAGGGGGAGGGGAGGGAGGGGGAGGGGACAGGAGGGAAGTGAGGG GGAGGGGATGTGAGGGGGGAGGGAGAGGGGAGGGGGAAGGGGAGGGTGAG GGAGGGGGAGGGGAGGGAGGGAGTGGGGGGAGGGAGTGGGGGAGGGGAGA GGGGGAGGGGAGGGAGTGGGGGAGAGGGGGAGGGGAGGGGA	TMEM51	ENSG00000171729.14	transcript	ENST00000376008.3	protein_coding		4741		chr1	TogoVar
TP53AIP1_chr11_128930370_128947871	128930749	G G	GGGAGGCC others(218): Show GGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCAGGGTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGG CCAGGGGTTAGGGAGGCCAGGGTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0074 a0002c0002t0016g0074	1	466	0.0022	225	c.48 others(236): Show c.4841_*4842insTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTA ACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCC CGGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4620		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930756	C C	CGGGGTTA others(218): Show CGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	466	0.0022	225	c.48 others(236): Show c.4834_*4835insTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCGGC CTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4613		chr11	TogoVar
TP73_chr1_3647516_3741201	3706410	C C	CGCAGGCC others(218): Show CGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCTGCAG GCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCTGCAGGCCCG GGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCTGCAGGCCCGGGGAG AGGGGTAATAGGGACAATCACGGTGCCCGCTGCAGGCCCGGGGAGAGGGG TAATAGGGACAATCACGGTGCCCGCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	358	0.0028	225	c.187 others(242): Show c.187-1125_187-1124insAGGGGTAATAGGGACAATCACGGTGCCC GCTGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCTGC AGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCTGCAGGCC CGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCTGCAGGCCCGGGG AGAGGGGTAATAGGGACAATCACGGTGCCCGCTGCAGGCCCGGGGAG	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPO_chr2_1408463_1548673	1537091	G G	GCCCCAAT others(218): Show GCCCCAATCTGTGCAACCTCCCACTCTACCCCCCACTGTGTGCAACCCCC CAAAATCCCCCCACTGTGTGCATCCTCCTCAAATCACTATTGTGTGAAAC CTCCCCAAATCCCCCCACTGTGTGCAACCTCCCCAATTCCCCACCACTGT GTGCAACCTCCTCAAATCCCCCCACTGTGTGCAACCACCCCAAACCCCCC ACAGTTTGAAACCTCCCCAAATCCCT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0095 a0002c0002t0003g0095	1	130	0.0077	225	c.261 others(244): Show c.2619-3503_2619-3502insCCCCAATCTGTGCAACCTCCCACTCT ACCCCCCACTGTGTGCAACCCCCCAAAATCCCCCCACTGTGTGCATCCTC CTCAAATCACTATTGTGTGAAACCTCCCCAAATCCCCCCACTGTGTGCAA CCTCCCCAATTCCCCACCACTGTGTGCAACCTCCTCAAATCCCCCCACTG TGTGCAACCACCCCAAACCCCCCACAGTTTGAAACCTCCCCAAATCCCT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TPSD1_chr16_1251069_1264008	1254974	A A	ACCATGGG others(218): Show ACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCT GGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGACTAGTTCAT GGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGGC TGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGTCCATGGG GAGCTGGGCTGGGGCTGGGGGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0001 a0001c0001t0070g0001	1	270	0.0037	225	c.-13 others(236): Show c.-1307_-1306insCCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCC ATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGG GCTGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGG GAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGG GGGTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGT	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		1094		chr16	TogoVar
TPSD1_chr16_1251069_1264008	1254974	A A	ACCATGGG others(218): Show ACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCT GGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCA TGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGGC TGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGTCCATGGG GAGCTGGGCTGGGGCTGGGGGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	270	0.0037	225	c.-13 others(236): Show c.-1307_-1306insCCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCC ATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGG GCTGGGACTAGTTCATGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGG GAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGG GGGTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGT	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		1094		chr16	TogoVar
TRAPPC9_chr8_139722725_140462744	140156981	C C	CTTTTCCA others(218): Show CTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCAT TCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGCCT CCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCA TTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCC TCCCTTTTCCATTCAGAAGCCTCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0021 a0001c0009t0021	a0001c0009t0021g0042 a0001c0009t0021g0042	1	98	0.0102	225	c.255 others(246): Show c.2556+64477_2556+64478insAGGGAGGCTTCTGAATGGAAAAGG GAGGCTTCTGAATGGAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTG AATGGAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTTTGAATGGAAAG GGAGGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTTTT GAATGGAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAA A	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140196379	A A	ATCACACC others(218): Show ATCACACCTGTGACACTAAAACACACTCAACGATCCACCATACAGATCAC ACCTGTGACACTAAAACACACTCAACGATCCACCATACAGCTCACACCTG TGACACTAAAACACACTCAACGATCCACCATACAGCTCACACCTGTGACA CTAAAACACACTCAACGATCCACCATACAGCTCACACCTGTGACACTAAA ACACACTCAACGATCCACCATACAGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0037 a0001c0003t0007g0037	1	98	0.0102	225	c.255 others(246): Show c.2556+25079_2556+25080insGCTGTATGGTGGATCGTTGAGTGT GTTTTAGTGTCACAGGTGTGAGCTGTATGGTGGATCGTTGAGTGTGTTTT AGTGTCACAGGTGTGAGCTGTATGGTGGATCGTTGAGTGTGTTTTAGTGT CACAGGTGTGAGCTGTATGGTGGATCGTTGAGTGTGTTTTAGTGTCACAG GTGTGATCTGTATGGTGGATCGTTGAGTGTGTTTTAGTGTCACAGGTGTG A	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRIM4_chr7_99885403_99924530	99887905	A A	ACCTCCCG others(218): Show ACCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCTACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	322	0.0031	225	c.42 others(236): Show c.4257_*4258insGAGGTAGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGTCAGCCCCCCACCCGGCCAGCCGCCCTGTCCGGGAGG	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		2497		chr7	TogoVar
TRIM4_chr7_99885403_99924530	99887928	C C	CGGGTGGG others(218): Show CGGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTACC TCCCTCCCGGACAGGGCGGCTGGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0068 a0002c0004t0001g0068	1	322	0.0031	225	c.42 others(236): Show c.4234_*4235insCGGCCAGCCGCCCTGTCCGGGAGGGAGGTAGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCC	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		2474		chr7	TogoVar
TRIM58_chr1_247852187_247885138	247870376	A A	AGTATCAG others(218): Show AGTATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCATGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATA GAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGC CGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACACCCAGAAG AACGAGGATTAGTATATTCATGAGCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0067 a0001c0009t0067	a0001c0009t0067g0303 a0001c0009t0067g0303	1	454	0.0022	225	c.871 others(242): Show c.871+2325_871+2326insTGGCCACCCATAGAGCCTGCACCACCAT GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870451	A A	AGTATCAG others(218): Show AGTATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCACACCCAGAAG AACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC CGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACACCCAGAAG AGCGAGGATTAGTATATTCATGAGCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02897.hp1 others(4): Show HG02615.hp2 HG02723.hp2 HG02897.hp1 HG02976.hp2 HG03139.hp2 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0020 a0001c0011t0035 a0001c0011t0020 a0001c0011t0035	a0001c0011t0020g0077 a0001c0011t0020g0078 a0001c0011t0020g0201 others(4): Show a0001c0011t0020g0077 a0001c0011t0020g0078 a0001c0011t0020g0201 a0001c0011t0020g0204 a0001c0011t0020g0302 a0001c0011t0035g0079 a0001c0011t0035g0202	7	454	0.0154	225	c.871 others(242): Show c.871+2400_871+2401insTGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAGCGAGGATTAGTATATTCATGAGCCGTATCAGAGTCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870492	A A	ACCCAGAA others(218): Show ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00642.hp2 others(33): Show HG00140.hp1 HG00280.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp2 HG01346.hp2 HG01358.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG02145.hp1 HG02300.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp2 HG02922.hp2 HG03041.hp2 HG03209.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG04204.hp2 HG06807.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0017	a0001c0008 a0001c0009 a0002c0003 others(3): Show a0001c0008 a0001c0009 a0002c0003 a0002c0007 a0004c0038 a0017c0045	a0001c0008t0004 a0001c0008t0008 a0001c0008t0044 others(15): Show a0001c0008t0004 a0001c0008t0008 a0001c0008t0044 a0001c0008t0064 a0001c0009t0006 a0001c0009t0008 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0008 a0002c0003t0011 a0002c0003t0021 a0002c0003t0024 a0002c0007t0008 a0002c0007t0023 a0004c0038t0075 a0017c0045t0004	a0001c0008t0004g0151 a0001c0008t0008g0133 a0001c0008t0008g0184 others(25): Show a0001c0008t0004g0151 a0001c0008t0008g0133 a0001c0008t0008g0184 a0001c0008t0044g0231 a0001c0008t0064g0284 a0001c0009t0006g0064 a0001c0009t0006g0270 a0001c0009t0008g0172 a0002c0003t0002g0010 a0002c0003t0003g0275 a0002c0003t0004g0234 a0002c0003t0004g0279 a0002c0003t0006g0011 a0002c0003t0006g0065 a0002c0003t0006g0066 a0002c0003t0006g0278 a0002c0003t0006g0282 a0002c0003t0008g0242 a0002c0003t0008g0261 a0002c0003t0011g0010 a0002c0003t0021g0011 a0002c0003t0021g0283 a0002c0003t0024g0010 a0002c0007t0008g0051 a0002c0007t0008g0211 a0002c0007t0023g0216 a0004c0038t0075g0183 a0017c0045t0004g0281	36	454	0.0793	225	c.871 others(242): Show c.871+2462_871+2463insCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACACCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870492	A A	ACCCAGAA others(218): Show ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAGCGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp1 HG02572.hp2 others(4): Show HG00741.hp1 HG01433.hp1 HG02572.hp2 HG02809.hp1 HG03195.hp2 NA18522.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0017 a0002c0015 a0001c0017 a0002c0015	a0001c0017t0013 a0002c0015t0013 a0001c0017t0013 a0002c0015t0013	a0001c0017t0013g0049 a0001c0017t0013g0197 a0001c0017t0013g0200 others(3): Show a0001c0017t0013g0049 a0001c0017t0013g0197 a0001c0017t0013g0200 a0002c0015t0013g0198 a0002c0015t0013g0199 a0002c0015t0013g0205	7	454	0.0154	225	c.871 others(242): Show c.871+2462_871+2463insCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACACCCAGAAGAGC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870549	T T	TAGAGCCT others(218): Show TAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGA GCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCATGCCCAGA AGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAGCCACCCA CAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGA GCAGTATCAGAGTCACAGCCACCCAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02572.hp1 HG01981.hp1 HG02572.hp1	a0002 a0002	a0002c0006 a0002c0014 a0002c0006 a0002c0014	a0002c0006t0034 a0002c0014t0034 a0002c0006t0034 a0002c0014t0034	a0002c0006t0034g0227 a0002c0014t0034g0236 a0002c0006t0034g0227 a0002c0014t0034g0236	2	454	0.0044	225	c.871 others(242): Show c.871+2503_871+2504insACCCAGAAGAACGAGGATTAGTATATTC ATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCATGCC CAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAGCCA CCCACAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTC ATGAGCAGTATCAGAGTCACAGCCACCCACAGAGCCTGCACCACCAC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870751	A A	AGTATCAG others(218): Show AGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC AGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp2 HG01928.hp2 others(2): Show HG01192.hp2 HG01496.hp2 HG01928.hp2 HG01952.hp1 HG01993.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0020 a0004c0004t0005g0108 a0004c0004t0005g0163 a0004c0004t0005g0020 a0004c0004t0005g0108 a0004c0004t0005g0163	5	454	0.0110	225	c.871 others(242): Show c.871+2775_871+2776insCGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870976	C C	CGTATCAG others(218): Show CGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACACCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATA GAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGC AGTATCAGAGTCACGGCCACCTGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG02647.hp2 HG02895.hp1 HG02897.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0006 a0001c0005 a0002c0006	a0001c0005t0001 a0002c0006t0001 a0001c0005t0001 a0002c0006t0001	a0001c0005t0001g0053 a0002c0006t0001g0206 a0002c0006t0001g0207 a0001c0005t0001g0053 a0002c0006t0001g0206 a0002c0006t0001g0207	4	454	0.0088	225	c.871 others(242): Show c.871+2953_871+2954insACCCAGAAGAACGAGGATTAGTATATTC ATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACACC CAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCA CCTGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTC ATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247871017	G G	GCCCAGAA others(218): Show GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00735.hp1 others(3): Show HG00099.hp1 HG00280.hp1 HG00735.hp1 HG01168.hp1 HG02735.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0001c0009 a0002c0003 others(1): Show a0001c0008 a0001c0009 a0002c0003 a0002c0007	a0001c0008t0044 a0001c0009t0006 a0001c0009t0065 others(3): Show a0001c0008t0044 a0001c0009t0006 a0001c0009t0065 a0002c0003t0004 a0002c0003t0006 a0002c0007t0023	a0001c0008t0044g0231 a0001c0009t0006g0064 a0001c0009t0065g0276 others(3): Show a0001c0008t0044g0231 a0001c0009t0006g0064 a0001c0009t0065g0276 a0002c0003t0004g0279 a0002c0003t0006g0282 a0002c0007t0023g0214	6	454	0.0132	225	c.871 others(242): Show c.871+3015_871+3016insCCTGCACCACCACGCCCAGAAGAACGAG GATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCT GCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATC AGAGTCACGGCCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAG GATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIML1_chr4_188134441_188152743	188152645	G G	GGGGGTTG others(218): Show GGGGGTTGAGAAGGGGAGTGAGAGGGTGAGAGGGGAGTGAGAGTGGGGTG AGAGGGAGTGAGAGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAGGGGAT TGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGGGGGTTGAGAAGGGGAGTGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	228	0.0044	225	c.52 others(236): Show c.5273_*5274insGGGGTTGAGAAGGGGAGTGAGAGGGTGAGAGGGG AGTGAGAGTGGGGTGAGAGGGAGTGAGAGGGGTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTG GGGGTGAGAGGGGATTGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGGGGGTTGAGAAGGGGAGTGAGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4903		chr4	TogoVar
TRPM2_chr21_44348621_44447644	44396147	G G	GGGGTGTG others(218): Show GGGGTGTGGAGGGGTGTGGAGGGCTGTGGAGGGATGTGGAGGGCTGTGGA GGCTGTGGAGGGGTGTGGAGGATGTGGAGGGGTGTGGAGGGCTGTGGAGG GATGTGGAGGGGTGTGGAGGGGTGTGGAGGGGTGTGGAGGGCTGTGGAGG GATGTGGAGGCTGTGGAGGGGTGTGGAGGGGTGTGGAGGGGTGTGGAGGC TGTGGAGGGATGTGGAGACTGTGGAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	44	0.0227	225	c.193 others(242): Show c.1932+607_1932+608insGGTGTGGAGGGCTGTGGAGGGATGTGGA GGGCTGTGGAGGCTGTGGAGGGGTGTGGAGGATGTGGAGGGGTGTGGAGG GCTGTGGAGGGATGTGGAGGGGTGTGGAGGGGTGTGGAGGGGTGTGGAGG GCTGTGGAGGGATGTGGAGGCTGTGGAGGGGTGTGGAGGGGTGTGGAGGG GTGTGGAGGCTGTGGAGGGATGTGGAGACTGTGGAAGGGTGTGGAGG	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr21	TogoVar
TUBGCP5_chr15_22994177_23044569	23043286	T T	TGCTGGGG others(218): Show TGCTGGGGGGTATCATAATCCCACCTGGCCAGAGATGCTAGGGGGACATC ATAACCCCACCTAGCCAGAGGTGCTGTGGGGCCATCATAACCCCAGATTG CCTGAGGTGCTGGGGGGCGGGGGGAACTTCATAACCCCACCCGGCCAGAG GTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGA TATCTTAACCTCACCTGGCCAGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	351	0.0029	225	c.-37 others(236): Show c.-3744_-3743insGCCTCTGGCCAGGTGAGGTTAAGATATCCCCCCA GCACCTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCACCTCTGGCC GGGTGGGGTTATGAAGTTCCCCCCGCCCCCCAGCACCTCAGGCAATCTGG GGTTATGATGGCCCCACAGCACCTCTGGCTAGGTGGGGTTATGATGTCCC CCTAGCATCTCTGGCCAGGTGGGATTATGATACCCCCCAGC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3718		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870213	C C	CCCACACA others(218): Show CCCACACACACCACACCCCACACACACCACACACCCCACACACACCACAC ACCCCACACACACCACACAAACCACACACACCACACACCCCACACACACC ACACAAACCACACACACCACACACCCCACACACACCACACACCCCACACA CACCACACACCCCACACACACCACACAAACCACACACACCACACACCCCA CACACACCACACACACACATCACATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	338	0.0030	225	c.35 others(244): Show c.35+21490_*35+21491insCACACCCCACACACACCACACACCCC ACACACACCACACACCCCACACACACCACACAAACCACACACACCACACA CCCCACACACACCACACAAACCACACACACCACACACCCCACACACACCA CACACCCCACACACACCACACACCCCACACACACCACACAAACCACACAC ACCACACACCCCACACACACCACACACACACATCACATACCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(218): Show ATATATATATGTATATATATACGTATATATTATATACGTATATATATGTA TATATATATACGTATATATATGTATATATATGTATATATATACGTATATA TATACGTATATATATGTATATATATACGTATATATACGTATATATATGTA TATATATATGTATATATACGTATATATATACGTATATATATATGTATATA TATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	186	0.0054	225	c.114 others(246): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATACATATATATACATATATATACGTATATATA TATACATATATATACGTATATAATATATACGTATATATATACATATATAT A	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(218): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATACGTATATATATGTATATATATGTATATATATACGTATATA TATACGTATATATATGTATATATATACGTATATATACGTATATATATGTA TATATATATGTATATATACGTATATATATACGTATATATATATGTATATA TATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	186	0.0054	225	c.114 others(246): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATACATATATATACATATATATACGTATATATA TACATATATATACGTATATAATATATACGTATATATATATACATATATAT A	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(218): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATGTATATATATGTATATATATACGTATATA TATACGTATATATATGTATATATATACGTATATATACGTATATATATGTA TATATATATGTATATATACGTATATATATACGTATATATATATGTATATA TATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	186	0.0054	225	c.114 others(246): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATACATATATATACATATATACGTATATATATA TACATATATATACGTATATAATATATACGTATATATATATACATATATAT A	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar

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