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
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(273): Show AGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGG AGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGA GGGGAGGGGAGGGGGGGAGGGGGGGGGGGAGGGGAGGGGAGGGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	260	0.0039	280	c.138 others(299): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCCCCCTCCCCCCCTCCCC TCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCT CCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCT CCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(273): Show AGGGGAGGGGGAGGGGAGGGGAAGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	260	0.0039	280	c.138 others(299): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCT CCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SSH2_chr17_29620938_29935228	29895242	A A	ATTATATA others(273): Show ATTATATATACATTTTATATATGAAATATATAAAATATATTTTATATATA CATTTTATATATGAAATATATAAAATATATTTTATATATACATTTTATAT ATGAAATATATAAAATATATTTTATATATACATTTTATATATGAAATATA TAAAATATATTTTATATATACATTTTATATATGAAATATATAAAATATAT TTTATATATACATTTTATATATGAAATATATAAAATATATTTTATATATA CATTTTATATATGAAATATATAAAATATATT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02132.hp2 HG02698.hp2 others(1): Show HG00323.hp1 HG02132.hp2 HG02698.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0166 a0002c0002t0002g0182 a0002c0002t0002g0193 others(1): Show a0002c0002t0002g0166 a0002c0002t0002g0182 a0002c0002t0002g0193 a0002c0002t0002g0203	4	232	0.0172	280	c.63+ others(297): Show c.63+34416_63+34695dupAATATATTTTATATATTTCATATATAAA ATGTATATATAAAATATATTTTATATATTTCATATATAAAATGTATATAT AAAATATATTTTATATATTTCATATATAAAATGTATATATAAAATATATT TTATATATTTCATATATAAAATGTATATATAAAATATATTTTATATATTT CATATATAAAATGTATATATAAAATATATTTTATATATTTCATATATAAA ATGTATATATAAAATATATTTTATATATTTCATATATAAAATGTATATAT AA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29895610	T T	TACATTTT others(273): Show TACATTTTATATATGAAATATATAAAATATATTTTATATATACATTTTAT ATATGAAATATATAAAATATATTTTATATATACATTTTATATATGAAATA TATAAAATATATTTTATATATACATTTTATATATGAAATATATAAAATAT ATTTTATATATACATTTTATATATGAAATATATAAAATATATTTTATATA TACATTTTATATATGAAATATATAAAATATATTTTATATATACATTTTAT ATATGAAATATATAAAATATATTTTATATAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0210 a0002c0002t0002g0210	1	232	0.0043	280	c.63+ others(297): Show c.63+34327_63+34328insGTATATAAAATATATTTTATATATTTCA TATATAAAATGTATATATAAAATATATTTTATATATTTCATATATAAAAT GTATATATAAAATATATTTTATATATTTCATATATAAAATGTATATATAA AATATATTTTATATATTTCATATATAAAATGTATATATAAAATATATTTT ATATATTTCATATATAAAATGTATATATAAAATATATTTTATATATTTCA TATATAAAATGTATATATAAAATATATTTTATATATTTCATATATAAAAT GT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SUFU_chr10_102498972_102638535	102637266	A A	ATAATATA others(273): Show ATAATATATATATTATATATTATATAACATATATTATATATAATATATAT ATTATATATTATATAACATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	268	0.0037	280	c.71 others(291): Show c.7111_*7112insTAATATATATATTATATATTATATAACATATATT ATATATAATATATATATTATATATTATATAACATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3732		chr10	TogoVar
SUMF1_chr3_4356146_4472269	4456815	T T	TGTGTGTG others(273): Show TGTGTGTGTATATATACGTGTATATATATACGTGTGTGTGTATATATACG TGTATATATATACGTGTATATATACACGTGTATATATATACGTGTGTGTA TATATACACGTGTATATATATACGTGTGTATATATACACGTGTATATATA TACACGTGTGTATATATACACGTGTATATATATACACGTGTGTATATATA CACGTGTATATATATACACGTGTGTATATATACACGTGTATATATATACA CGTGTGTATATATACACGTGTATATATATAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	392	0.0026	280	c.271 others(297): Show c.271-3767_271-3766insGTATATATATACACGTGTATATATACAC ACGTGTATATATATACACGTGTATATATACACACGTGTATATATATACAC GTGTATATATACACACGTGTATATATATACACGTGTATATATACACACGT GTATATATATACACGTGTATATATACACACGTATATATATACACGTGTAT ATATACACACACGTATATATATACACGTGTATATATACACGTATATATAT ACACGTATATATACACACACACGTATATATATACACGTATATATACACAC AC	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(273): Show TATATACATACATACACATATGTGTACATATGTGTATATATACATATATA CACATATATATGTATATATACATATATACACATATATATGTATATATACA CATATGTGAATATGTATATGTGTGTTATATATACACATATGTGTATATGT ATATATACATATATACACATATGTGTATATATACATATATACATATACAC ATATGTGTATATATAACACATATATACACATATGTGTATATATAACACAT ATATACATATACACATATGTGTATATATAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp1 HG03209.hp2 others(1): Show HG02258.hp1 HG02896.hp1 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0055 a0001c0001t0001 a0001c0001t0005 a0001c0001t0055	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0005g0166 others(1): Show a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0005g0166 a0001c0001t0055g0332	4	376	0.0106	280	c.158 others(299): Show c.1582-2860_1582-2859insCATACATACACATATGTGTACATATG TGTATATATACATATATACACATATATATGTATATATACATATATACACA TATATATGTATATATACACATATGTGAATATGTATATGTGTGTTATATAT ACACATATGTGTATATGTATATATACATATATACACATATGTGTATATAT ACATATATACATATACACATATGTGTATATATAACACATATATACACATA TGTGTATATATAACACATATATACATATACACATATGTGTATATATAACA TATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(273): Show TATATACATATATACACATATGTGTACATATGTGTATATATACATATATA TACACATATATATGTATATATACACATATGTGAATATGTATATATGTGTT ATATATACACATATGTGTATATGTATATATACATATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATAACACATATATA CACATATGTGTATATATAACACATATATACACATATGTGTATATATACAT ATATACATATACACATATGTGTATATATAAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	376	0.0027	280	c.158 others(299): Show c.1582-2860_1582-2859insCATATATACACATATGTGTACATATG TGTATATATACATATATATACACATATATATGTATATATACACATATGTG AATATGTATATATGTGTTATATATACACATATGTGTATATGTATATATAC ATATATACACATATGTGTATATATACATATATACATATACACATATGTGT ATATATAACACATATATACACATATGTGTATATATAACACATATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATATAACA TATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TGTGTATA others(273): Show TGTGTATATACATATATACATATACACATATGTGTATATATACATATATA CATATACACATATGTGTATATATACATATATACATATACACATAGGTGTA TATATAACACATATATACACCTATGTGTATATATAACACATATATACACC TATGTGTATATATAACACATATATACACCTATGTGTATATATACATATAT ACACCTATGTGTATATATACATATATACACCTATGTGTATATATACATAT ATACATATACACATATGTGTATATATAACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02622.hp1 others(2): Show HG02055.hp2 HG02258.hp2 HG02622.hp1 HG02965.hp2 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0004 a0001c0005t0010 others(1): Show a0001c0005t0003 a0001c0005t0004 a0001c0005t0010 a0001c0005t0068	a0001c0005t0003g0223 a0001c0005t0004g0237 a0001c0005t0010g0220 others(2): Show a0001c0005t0003g0223 a0001c0005t0004g0237 a0001c0005t0010g0220 a0001c0005t0010g0369 a0001c0005t0068g0248	5	376	0.0133	280	c.158 others(299): Show c.1582-2865_1582-2864insGTGTATATACATATATACATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATATACAT ATATACATATACACATAGGTGTATATATAACACATATATACACCTATGTG TATATATAACACATATATACACCTATGTGTATATATAACACATATATACA CCTATGTGTATATATACATATATACACCTATGTGTATATATACATATATA CACCTATGTGTATATATACATATATACATATACACATATGTGTATATATA ACAC	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYNPR_chr3_63273308_63621924	63313900	C C	CATATATA others(273): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TATCCATATATATATCCATATATATATATATCCATATATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATATCCATATATATATATATCCATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	246	0.0041	280	c.84+ others(297): Show c.84+35182_84+35183insCCATATATATATCCATATATATATATCC ATATATATATCCATATATATATATCCATATATATATCCATATATATATAT CCATATATATATCCATATATATATATATCCATATATATATATATATCCAT ATATATATATATCCATATATATATATATCCATATATATATATATCCATAT ATATATATCCATATATATATATATCCATATATATATATATCCATATATAT ATATATCCATATATATATATATCCATATATATATATATCCATATATATAT AT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TBC1D22A_chr22_46757650_47180693	46772609	T T	TATATATG others(273): Show TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATATACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0034 a0002c0003t0009g0034	1	112	0.0089	280	c.62+ others(295): Show c.62+9766_62+9767insTGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATATACACATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89898395	C C	CGGTTGCT others(273): Show CGGTTGCTGACCGGGGCGCTGAGCAGTGTGTGGGGTGGAGCGGGTGTTGA CTGGGGTGCTGAGCAGTGTGTGGGATGGAGCGGGTGTTGACTGGGGCGCT GAGCAGTGTGTGGGGTGGAGCAGGTGCTGGCCGGGGCGCTGAGCAGAGGG CGGGGTGGAATGGGTGCTGACCGGGGCGCTAAGCAGTGTGTGGGGTGGAG TGGGTGTTGACTGGGGCGCTGAGCAGTGTGTAGGGTGGAGCAGGTGCTGG CCGGGGCGCTGAGCAGAGGGCGGGGTGGAAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04115.hp2 HG03669.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0004	a0001c0001t0001g0272 a0001c0005t0004g0271 a0001c0001t0001g0272 a0001c0005t0004g0271	2	300	0.0067	280	c.102 others(297): Show c.1023-160_1023-159insTTGCTGACCGGGGCGCTGAGCAGTGTGT GGGGTGGAGCGGGTGTTGACTGGGGTGCTGAGCAGTGTGTGGGATGGAGC GGGTGTTGACTGGGGCGCTGAGCAGTGTGTGGGGTGGAGCAGGTGCTGGC CGGGGCGCTGAGCAGAGGGCGGGGTGGAATGGGTGCTGACCGGGGCGCTA AGCAGTGTGTGGGGTGGAGTGGGTGTTGACTGGGGCGCTGAGCAGTGTGT AGGGTGGAGCAGGTGCTGGCCGGGGCGCTGAGCAGAGGGCGGGGTGGAAT GG	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89898395	C C	CGGTTGCT others(273): Show CGGTTGCTGACCGGGGCGCTGAGCAGTGTGTGGGGTGGAGCGGGTGTTGA CTGGGGTGCTGAGCAGTGTGTGGGGTGGAGCGGGTGTTGACTGGGGCGCT GAGCAGTGTGTGGGGTGGAGCAGGTGCTGGCCGGGGCGCTGAGCAGAGGG CGGGGTGGAATGGGTGCTGACCGGGGCGCTAAGCAGTGTGTGGGGTGGAG TGGGTGTTGACTGGGGCGCTGAGCAGTGTGTAGGGTGGAGCAGGTGCTGG CCGGGGCGCTGAGCAGAGGGCGGGGTGGAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00609.hp1 others(33): Show HG00323.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01175.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp2 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18960.hp1 NA18979.hp1 NA18984.hp2 NA18990.hp2 NA19003.hp1 NA19057.hp2 NA19070.hp2 NA19074.hp2 NA19087.hp1	a0001 a0005 a0010 others(2): Show a0001 a0005 a0010 a0011 a0013	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0005c0008 a0010c0019 a0011c0012 a0013c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0005t0001 a0005c0008t0001 a0010c0019t0001 a0011c0012t0001 a0013c0007t0001	a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0002t0001g0021 others(33): Show a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0005g0027 a0001c0005t0001g0266 a0001c0005t0001g0267 a0001c0005t0001g0268 a0005c0008t0001g0047 a0010c0019t0001g0026 a0011c0012t0001g0269 a0013c0007t0001g0041	36	300	0.1200	280	c.102 others(297): Show c.1023-160_1023-159insTTGCTGACCGGGGCGCTGAGCAGTGTGT GGGGTGGAGCGGGTGTTGACTGGGGTGCTGAGCAGTGTGTGGGGTGGAGC GGGTGTTGACTGGGGCGCTGAGCAGTGTGTGGGGTGGAGCAGGTGCTGGC CGGGGCGCTGAGCAGAGGGCGGGGTGGAATGGGTGCTGACCGGGGCGCTA AGCAGTGTGTGGGGTGGAGTGGGTGTTGACTGGGGCGCTGAGCAGTGTGT AGGGTGGAGCAGGTGCTGGCCGGGGCGCTGAGCAGAGGGCGGGGTGGAAT GG	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TECTA_chr11_121096243_121196490	121185609	A A	AGTAGGGA others(273): Show AGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAAT GAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAATGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01175.hp1 HG00642.hp2 HG00741.hp2 HG01175.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0007 a0003c0004t0002g0082 a0003c0004t0002g0007 a0003c0004t0002g0082	3	348	0.0086	280	c.600 others(299): Show c.6000-2135_6000-2134insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGCGTAGGGAAAGCAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1272751	A A	ACATCAGA others(273): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	392	0.0026	280	c.228 others(297): Show c.2287-472_2287-471insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273296	C C	CCACACAT others(273): Show CCACACATCAGACCCCACGACTGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0338	1	392	0.0026	280	c.228 others(299): Show c.2287-1017_2287-1016insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATG TGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273699	C C	CCACACAT others(273): Show CCACACATCAGACCCCACGACTGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACTGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	392	0.0026	280	c.228 others(299): Show c.2287-1420_2287-1419insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCAGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATG TGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TIMM22_chr17_992129_1008671	993432	A A	ATAATCCA others(273): Show ATAATCCACCCTCACATAATCCACCCCTCACATAATCCACCTCACATAAT CCACCCACACTCACATAATCCACCTCACATAATCCACCCTCACATAATCC ACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCTC ACGTAATCCACCCTCACGTAATCCACCTCACATAATCCACCCACCCTCAC ATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACATAATCC ACCTCACATAATCCACCCTCACATAATCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02145.hp2 HG02258.hp1 others(6): Show HG01167.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02886.hp2 HG03579.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016	a0001c0001t0003g0097 a0001c0001t0009g0011 a0001c0001t0016g0011 a0001c0001t0003g0097 a0001c0001t0009g0011 a0001c0001t0016g0011	9	439	0.0205	280	c.-37 others(291): Show c.-3711_-3710insTAATCCACCCTCACATAATCCACCCCTCACATAA TCCACCTCACATAATCCACCCACACTCACATAATCCACCTCACATAATCC ACCCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCACCCTC ACATAATCCACCCTCACGTAATCCACCCTCACGTAATCCACCTCACATAA TCCACCCACCCTCACATAATCCACCTCACATAATCCACCTCACATAATCC ACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCAC	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3696		chr17	TogoVar
TIMM22_chr17_992129_1008671	993432	A A	ATAATCCA others(273): Show ATAATCCACCCTCACATAATCCACCCCTCACATAATCCACCTCACATAAT CCACCCACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCC ACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCTC ACGTAATCCACCCTCACGTAATCCACCTCACATAATCCACCCACCCTCAC ATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACATAATCC ACCTCACATAATCCACCCTCACATAATCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	1	439	0.0023	280	c.-37 others(291): Show c.-3711_-3710insTAATCCACCCTCACATAATCCACCCCTCACATAA TCCACCTCACATAATCCACCCACCCTCACATAATCCACCTCACATAATCC ACCCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCACCCTC ACATAATCCACCCTCACGTAATCCACCCTCACGTAATCCACCTCACATAA TCCACCCACCCTCACATAATCCACCTCACATAATCCACCTCACATAATCC ACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCAC	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3696		chr17	TogoVar
TIMM22_chr17_992129_1008671	993432	A A	ATAATCCA others(273): Show ATAATCCACCCTCCCATAATCCACCCCTCACATAATCCACCTCACATAAT CCACCCACACTCACATAATCCACCTCACATAATCCACCCTCACATAATCC ACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCTC ACGTAATCCACCCTCACGTAATCCACCTCACATAATCCACCCACCCTCAC ATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACATAATCC ACCTCACATAATCCACCCTCACATAATCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0104 a0001c0001t0005g0104	1	439	0.0023	280	c.-37 others(291): Show c.-3711_-3710insTAATCCACCCTCCCATAATCCACCCCTCACATAA TCCACCTCACATAATCCACCCACACTCACATAATCCACCTCACATAATCC ACCCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCACCCTC ACATAATCCACCCTCACGTAATCCACCCTCACGTAATCCACCTCACATAA TCCACCCACCCTCACATAATCCACCTCACATAATCCACCTCACATAATCC ACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCAC	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3696		chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747853	G G	GCTGGGGT others(273): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01952.hp2 HG01123.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0090 a0001c0001t0004 a0001c0001t0090	a0001c0001t0004g0217 a0001c0001t0090g0294 a0001c0001t0004g0217 a0001c0001t0090g0294	2	314	0.0064	280	c.189 others(295): Show c.189-460_189-459insCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747874	C C	CTGGGGTA others(273): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	314	0.0032	280	c.189 others(295): Show c.189-452_189-451insTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(273): Show CAGCCTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG03831.hp2 HG02280.hp1 HG02486.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0025 a0001c0001t0003 a0001c0001t0005 a0001c0001t0025	a0001c0001t0003g0065 a0001c0001t0005g0071 a0001c0001t0025g0091 a0001c0001t0003g0065 a0001c0001t0005g0071 a0001c0001t0025g0091	3	94	0.0319	280	c.129 others(301): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCTGGTGAGTGATGATGGTG GAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM232_chr5_110414496_110731671	110610240	A A	AAGGAAGG others(273): Show AAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGG AAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	250	0.0040	280	c.903 others(297): Show c.903-3954_903-3953insCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTC CTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CT	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	8/13			chr5	TogoVar
TMEM255B_chr13_113754226_113821995	113788047	A A	AGTGGGGA others(273): Show AGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGG GAAGGCGGAGGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGG GATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGC GGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGC AGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGG GTGGGGATGGGCAGAGGGGAAGGCGGAGGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	260	0.0039	280	c.253 others(297): Show c.253-7038_253-7037insGTGGGGATGGGCAGAGGGGAAGGCGGAG GGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAG GGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGG GGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGG CGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGG CAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGG GG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113788167	A A	AGGGGGTG others(273): Show AGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAG AGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGT GGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAA GGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATG GGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAG GGGGTGGGGATGGGCAGAGGGGAAGGCGGAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	260	0.0039	280	c.253 others(297): Show c.253-6746_253-6745insAGGGGAAGGCGGAGGGGGTGGGGATGGG CAGAGGGGAAGGCGGAGGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGG GGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGG GGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGG GATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGC GGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGC AG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113788235	T T	TGGGGATG others(273): Show TGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGA AGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGAT GGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGA GGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGA GGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTG GGGATGGGCAGAGGGGAAGGCGGAGGGGGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0222 a0001c0001t0009g0222	1	260	0.0039	280	c.253 others(297): Show c.253-6746_253-6745insAGGGGAAGGCGGAGGGGGTGGGGATGGG CAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGG GGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGGATGGGCAGAGG GGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGG GATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGC GGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGC AG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113788390	T T	TGGGGATG others(273): Show TGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGA AGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGAT GGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGA GGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGA GGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTG GGGATGGGCAGAGGGGAAGGCGGAGGGGGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0024 a0007c0019t0024	a0007c0019t0024g0230 a0007c0019t0024g0230	1	260	0.0039	280	c.253 others(297): Show c.253-6746_253-6745insAGGGGAAGGCGGAGGGGGTGGGGATGGG CAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGG GGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGG GAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGG ATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCG GAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGGATGGGC AG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM71_chr8_132704941_132765582	132713193	A A	AGAGATTC others(273): Show AGAGATTCGATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	378	0.0027	280	c.872 others(295): Show c.872+801_872+802insGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATCGAATCTC	TMEM71	ENSG00000165071.15	transcript	ENST00000677595.1	protein_coding	9/9			chr8	TogoVar
TMEM87B_chr2_112050269_112124314	112054905	G G	GGCCCCGC others(273): Show GGCCCCGCCTCCACACGGCCCCGCCTCCACACGGCCCCGCCTCCACACGG CCCCGCCTCCACACGGCCCCGCCTCCACGCTCGGCCTGGCCCCAAGCTCT TCCTTCCTGGGGCACTCTGTCTCCGCACTCCGGCCTGGTCCCGAGCCCCG CCCCGCCTCCACACGGCCCCGCCACCACACGGCCCCGCCTCCACGCGGCC CCGCCTCCACGCTCGGCCTGGCCCCAAGCTCTTCCTTCCTGGGGCACTCT GTCTCCGCACGCCGGCCTGGTCCCGAGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0290 a0001c0004t0010g0291 a0001c0004t0010g0290 a0001c0004t0010g0291	2	316	0.0063	280	c.-68 others(289): Show c.-687_-686insGCCCCGCCTCCACACGGCCCCGCCTCCACACGGCCC CGCCTCCACACGGCCCCGCCTCCACACGGCCCCGCCTCCACGCTCGGCCT GGCCCCAAGCTCTTCCTTCCTGGGGCACTCTGTCTCCGCACTCCGGCCTG GTCCCGAGCCCCGCCCCGCCTCCACACGGCCCCGCCACCACACGGCCCCG CCTCCACGCGGCCCCGCCTCCACGCTCGGCCTGGCCCCAAGCTCTTCCTT CCTGGGGCACTCTGTCTCCGCACGCCGGCCTGGTCCCGAGCCCC	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding		363		chr2	TogoVar
TMTC2_chr12_82681906_83139866	82900207	C C	CTGTAGGA others(273): Show CTGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATA TACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATA TAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAAT GTATATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCG GAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTA GGAATGTATATACATATCCGGAATATAGATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	96	0.0104	280	c.148 others(299): Show c.1483+3676_1483+3955dupGTATATACATATCCGGAATATAGATA TGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATAT ACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATAT AGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATG TATATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGG AATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAG GAAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMTC2_chr12_82681906_83139866	82900452	A A	ATGTAGGA others(273): Show ATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATA TACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATA TAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAAT GTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCG GAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTA GGAATGTATATACATATCCGGAATATAGATC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	96	0.0104	280	c.148 others(299): Show c.1483+3955_1483+3956insGTATATACATATCCGGAATATAGATC TGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATAT ACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATAT AGATCTGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATG TATATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGG AATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAG GAAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNKS_chr8_9550912_9787346	9600282	T T	TTATTTTT others(273): Show TTATTTTTTTGAACTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0004 a0001c0030t0004	a0001c0030t0004g0085 a0001c0030t0004g0085	1	272	0.0037	280	c.899 others(299): Show c.899-15283_899-15282insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CATTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCTATTTTTTTGAAC TTTT	TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
TOLLIP_chr11_1269371_1314632	1287395	G G	GCCTCCCC others(273): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	2	348	0.0058	280	c.519 others(297): Show c.519+1228_519+1229insGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287465	G G	GCCTCCCC others(273): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	348	0.0029	280	c.519 others(297): Show c.519+1158_519+1159insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287675	C C	CCCTCCCC others(273): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCACC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGC CGCAGCCTCCCTGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCG CAGCCTCCCTGCCGCACCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	348	0.0029	280	c.519 others(295): Show c.519+948_519+949insCTGCGGCGGGGAGGGTGCGGCAGGGAGGCT GCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCAGGGAGGCTGC GGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGG CGGTGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TPD52_chr8_80029745_80176564	80072352	T T	TGTGTATA others(273): Show TGTGTATATACATGTACACATAGATATGCGTGTATATACATGTACACATA GATATGCGTGTATATACATGTACACATAGATATGCGTGTATATACATGTA CACATAGATATGCATGTATATACATGTACACATAGATATGCGTGTATATA CATGTACACATAGATATGCGTGTATATACATGTACACATAGATATGCGTG TATATACATGTACACATAGATATGCGTGTATATACATGTACACATAGATA TGCGTGTATATACATGTACACATAGATATGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	228	0.0044	280	c.20- others(295): Show c.20-7760_20-7759insGCATATCTATGTGTACATGTATATACACGC ATATCTATGTGTACATGTATATACACGCATATCTATGTGTACATGTATAT ACACGCATATCTATGTGTACATGTATATACACGCATATCTATGTGTACAT GTATATACACGCATATCTATGTGTACATGTATATACATGCATATCTATGT GTACATGTATATACACGCATATCTATGTGTACATGTATATACACGCATAT CTATGTGTACATGTATATACACGCATATCTATGTGTACATGTATATACAC	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TPRG1_chr3_189166971_189330304	189312188	T T	TCCTTCTT others(273): Show TCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCTTTCCTTCTTTCTTTCCTTCTTTCCTTCTTTCCTTC TTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTT TCCTTCTTTCCTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0144 a0001c0001t0015g0144	1	288	0.0035	280	c.633 others(297): Show c.633+1650_633+1651insCTTCTTTCCTTCTTTCCTTCTTTCCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCTTTC CTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCT TCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTCCTTTCTTCCTTTCTT CC	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPRG1_chr3_189166971_189330304	189312204	T T	TCTTTCCT others(273): Show TCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCTTTCCTTCTTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTC CTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCT TCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0064 a0001c0001t0026g0064	1	288	0.0035	280	c.633 others(297): Show c.633+1670_633+1671insCTTCTTTCCTTCTTTCCTTCTTTCCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCCTTCTTTC CTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCT TCTTTCCTTCTTTCCTTCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTCC TTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTT TC	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPSD1_chr16_1251069_1264008	1258679	C C	CTGAGCCC others(273): Show CTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCCCTGC TCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGC CCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCC TGGGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCC CCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCCTCCCCTTTCTTGAGCC CCTCCTCCACCCTCAGCCCCCTCCCCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00642.hp2 others(15): Show HG00099.hp1 HG00140.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01258.hp2 HG01346.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp1 HG02293.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0009 a0003c0003t0003g0003 a0003c0003t0003g0009	18	270	0.0667	280	c.31 others(289): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC CCTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCC CTTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCCTCCCCTTTCTT GAGCCCCTCCTCCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TRPC4AP_chr20_34997404_35097807	35097447	A A	ACATATAC others(273): Show ACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATAT ACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGC GTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGT ATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATAC ATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATAC ACGCGTGTGTATATACATATACACGCGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	334	0.0030	280	c.-46 others(291): Show c.-4667_-4666insCACACGCGTGTATATGTATATACACACGCGTGTA TATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTA TATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACA CACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGCG TGTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATA TGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATG	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4641		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097525	A A	ACATATAC others(273): Show ACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATAT ACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGC GTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGT ATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATAC ATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATAC ACGCGTGTGTATATACATATACACGCGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	334	0.0030	280	c.-47 others(291): Show c.-4745_-4744insCACACGCGTGTATATGTATATACACACGCGTGTA TATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTA TATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACA CACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGCG TGTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATA TGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATG	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4719		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097624	T T	TACATATA others(273): Show TACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATA TACACGCGTGTGTATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACG CGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATATATACATATACACGCGTGCGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	334	0.0030	280	c.-48 others(291): Show c.-4844_-4843insGTATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATACACACGCGTGTATAT GTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4818		chr20	TogoVar
TRPC6_chr11_101446564_101589007	101558204	T T	TGTATACA others(273): Show TGTATACATGTATACATGTATACATGTATACGGGTATACATGTATACATG TATACGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTA TACATGTATACATGTATACGGGTATACATGTATACATGTATACATGTATA CGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTATACA TGTATACATGTATACGGGTATACATGTATACATGTATACATGTATACGGG TATACATGTATACATGTATACATGTATACGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0237 a0001c0002t0004g0237	1	252	0.0040	280	c.170 others(299): Show c.170+25129_170+25130insCCGTATACATGTATACATGTATACAT GTATACCCGTATACATGTATACATGTATACATGTATACCCGTATACATGT ATACATGTATACATGTATACCCGTATACATGTATACATGTATACATGTAT ACCCGTATACATGTATACATGTATACATGTATACCCGTATACATGTATAC ATGTATACATGTATACCCGTATACATGTATACATGTATACATGTATACCC GTATACATGTATACATGTATACCCGTATACATGTATACATGTATACATGT ATAC	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TUNAR_chr14_95871832_95930571	95927755	G G	GTCCCTCT others(273): Show GTCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCC ATCCCTCTCTCCCTCTCCCTCTCCCTCCGTCCCTCTCTCCCTCTCCCTCT CCCTCCGTCCCTCTCTCCCTCTCCCTCTCCCTCCGTCCCTCTCTCCCTCT CCCTCCATCCCTCTCCCTCCATCCCTCTCCCTCCATCCCTCTCCCTCTCC CTCCATCCCTCTCCTTCTCCCTCCATCCCTCTCTCCCTCTCCCTCCATCC CTCTCCCTCCATCCCTCTCCCTCTCCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 NA20805.hp1 HG02698.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0157 a0001c0001t0003g0125 a0001c0001t0003g0157	2	338	0.0059	280	c.47 others(291): Show c.4789_*4790insTCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTC TCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCTCCCTCCGTCCCTC TCTCCCTCTCCCTCTCCCTCCGTCCCTCTCTCCCTCTCCCTCTCCCTCCG TCCCTCTCTCCCTCTCCCTCCATCCCTCTCCCTCCATCCCTCTCCCTCCA TCCCTCTCCCTCTCCCTCCATCCCTCTCCTTCTCCCTCCATCCCTCTCTC CCTCTCCCTCCATCCCTCTCCCTCCATCCCTCTCCCTCTCCCTCCA	TUNAR	ENSG00000250366.4	transcript	ENST00000503525.3	protein_coding		2185		chr14	TogoVar
UBE4A_chr11_118354600_118404211	118355861	A A	ATATACGC others(273): Show ATATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	320	0.0031	280	c.-38 others(291): Show c.-3855_-3854insTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3738		chr11	TogoVar
USF3_chr3_113643385_113701642	113683243	C C	CTCTAGTT others(273): Show CTCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAA ACTATTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCT ATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTT TAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTATTATCT AGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTA TTATCTAGTTTTTAATCTATAAAAACTATTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0091 a0009c0023t0091	a0009c0023t0091g0127 a0009c0023t0091g0127	1	342	0.0029	280	c.-13 others(299): Show c.-134-5847_-134-5846insTAATAGTTTTTATAGATTAAAAACTA GATAATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAA AAACTAGATAATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATA GATTAAAAACTAGATAATAGTTTTTATAGATTAAAAACTAGATAATAGTT TTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAAAAACTAGATA ATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAAAAAC TAGA	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding	1/6			chr3	TogoVar
VCX2_chrX_8164944_8176267	8169105	C C	CCTCCCTC others(273): Show CCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCAC ACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCT CCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCTCCCCTCACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCT TCCTCCCTCCCTCCCTCCCCACACACCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0011 a0005c0006t0002g0011	1	115	0.0087	280	c.92 others(289): Show c.926_*927insAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		838		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169164	T T	TCTTCCTC others(273): Show TCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTCCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCC CACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCTCACACACCACCG CTTCCTCCCTCCCTCCCTCCCTCCCCACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	115	0.0087	280	c.86 others(289): Show c.867_*868insTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTG GTGTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		779		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159129331	A A	ACTCTGGT others(273): Show ACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGCTCCCTCA AACTGGCCTCTGGCGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTT CCCTCAAACTGGCCTCTGGCGGGGACAGGGCCAGGTGACCAGCTTCACAC TCTGTTCCCTCAAACTGGCCTCTGGTGGGGACAGGGCCAGGTGACCAGCT TCACACTCTGCTCCCTCAAACTGGCCTCTGGCGGGGACAGGGCCAGGTGA CCAGCTTCACACTCTGCTCCCTCAAACTGGC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0279 a0001c0002t0002g0279	1	336	0.0030	280	c.151 others(299): Show c.151+13114_151+13115insGCCAGTTTGAGGGAGCAGAGTGTGAA GCTGGTCACCTGGCCCTGTCCCCGCCAGAGGCCAGTTTGAGGGAGCAGAG TGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAGAGGCCAGTTTGAGGGA ACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCGCCAGAGGCCAGTTT GAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCGCCAGAGGC CAGTTTGAGGGAGCAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACC AGAG	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar

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