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
SKI_chr1_2223319_2315213	2281130	C C	CGAGAGGA others(211): Show CGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCT TCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGATAT CTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0021 a0001c0008t0021	a0001c0008t0021g0252 a0001c0008t0021g0252	1	330	0.0030	218	c.970 others(237): Show c.970-21844_970-21843insGGACAGGCGGTGGCGGAGATCTTCAT AGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTC ATAGAGAGGTGGCGGATATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC25A36_chr3_140936836_140985995	140983551	A A	ATATATAC others(211): Show ATATATACATATATATATATATATACATATACATATATATATGTATATAT ATATATGTATATATATATATGTATGTATATATATATGTATATATATGTAT GTATATATATGTATATATATATGTATATATATATGTATATATATATGTGT ATATATATGTATATATATGTATATATATGTATATATATGTATATATATGT ATATATATGTATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0071 a0001c0003t0026g0071	1	270	0.0037	218	c.70 others(229): Show c.7098_*7099insTATATACATATATATATATATATACATATACATA TATATATGTATATATATATATGTATATATATATATGTATGTATATATATA TGTATATATATGTATGTATATATATGTATATATATATGTATATATATATG TATATATATATGTGTATATATATGTATATATATGTATATATATGTATATA TATGTATATATATGTATATATATGTATATATATG	SLC25A36	ENSG00000114120.14	transcript	ENST00000324194.12	protein_coding		2557		chr3	TogoVar
SLC44A5_chr1_75197129_75616114	75280309	A A	AATCTATA others(211): Show AATCTATATATTGTATATATTATATATTGTATATATAATCTATATATTGT ATATATTATATATTGTATATATAATCTATATATTGTATATATTATATATT GTATATATAATCTATATATTGTATATATTATATATTGTATATATAATCTA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATAAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0067 a0001c0006t0001g0067	1	156	0.0064	218	c.176 others(235): Show c.176-5268_176-5267insATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATAGATTATA TATACAATATATAATATATACAATATATAGATTATATATACAATATATAA TATATACAATATATAGATTATATATACAATATATAATATATACAATATAT AGATTATATATACAATATATAATATATACAATATATAGAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC6A18_chr5_1220381_1251189	1229907	A A	AAGGGAAG others(211): Show AAGGGAAGAAGGGCTCTCAGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCT GTCACGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCTATCATGGTGCAGGC TGGAGGTGGGGGAAGAAGAGCTCTCAGGTGCAGGCTGGAGGTGGGGGAGG GAAAAGGGGCTCTCACAGCACAGGCTGGAGGGGAGCGAAGAAGGGCTCTA ACGGTACAGGCTGGAGGGG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18940.hp2 NA18963.hp2 others(3): Show NA18939.hp1 NA18940.hp2 NA18963.hp2 NA18969.hp1 NA19002.hp2 NA19007.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0004 a0005c0006t0003 a0005c0006t0004	a0005c0006t0003g0033 a0005c0006t0003g0249 a0005c0006t0003g0250 others(2): Show a0005c0006t0003g0033 a0005c0006t0003g0249 a0005c0006t0003g0250 a0005c0006t0004g0251 a0005c0006t0004g0252	6	456	0.0132	218	c.161 others(235): Show c.161-2303_161-2086dupAGGGCTCTCAGGTGCAGGCTGGAGGGGA GGGAAGAAGGGCTGTCACGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCTA TCATGGTGCAGGCTGGAGGTGGGGGAAGAAGAGCTCTCAGGTGCAGGCTG GAGGTGGGGGAGGGAAAAGGGGCTCTCACAGCACAGGCTGGAGGGGAGCG AAGAAGGGCTCTAACGGTACAGGCTGGAGGGGAGGGAAGA	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A19_chr5_1196595_1230111	1229907	A A	AAGGGAAG others(211): Show AAGGGAAGAAGGGCTCTCAGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCT GTCACGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCTATCATGGTGCAGGC TGGAGGTGGGGGAAGAAGAGCTCTCAGGTGCAGGCTGGAGGTGGGGGAGG GAAAAGGGGCTCTCACAGCACAGGCTGGAGGGGAGCGAAGAAGGGCTCTA ACGGTACAGGCTGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18940.hp1 NA18963.hp1 others(3): Show NA18939.hp1 NA18940.hp1 NA18963.hp1 NA18969.hp1 NA19002.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0116 a0001c0001t0010g0156 a0001c0001t0010g0004 a0001c0001t0010g0116 a0001c0001t0010g0156	6	458	0.0131	218	c.80 others(229): Show c.8003_*8004insAGGGAAGAAGGGCTCTCAGGTGCAGGCTGGAGGG GAGGGAAGAAGGGCTGTCACGGTGCAGGCTGGAGGGGAGGGAAGAAGGGC TATCATGGTGCAGGCTGGAGGTGGGGGAAGAAGAGCTCTCAGGTGCAGGC TGGAGGTGGGGGAGGGAAAAGGGGCTCTCACAGCACAGGCTGGAGGGGAG CGAAGAAGGGCTCTAACGGTACAGGCTGGAGGGG	SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding		4797		chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	91957116	A A	AATATATA others(211): Show AATATATAGTATATAATATATATAATATATATACTATATATTATATATAT AATATATAGTATATAATATATATAATATATATACTATATATTATATATAT AATATATAGTATATAATATATATAATATATATACTATATATTATATATAT AATATATAGTATATAATATATATATTATATATACTATATATTATATATAT AATATATAGTATATATAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02109.hp2 others(8): Show HG01109.hp2 HG02109.hp1 HG02109.hp2 HG02622.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp2 HG03195.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003	a0001c0001t0001 a0001c0001t0018 a0001c0001t0038 others(6): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0038 a0001c0001t0056 a0001c0001t0058 a0001c0002t0001 a0001c0002t0017 a0001c0010t0012 a0002c0003t0011	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0038 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0018g0187 a0001c0001t0038g0181 a0001c0001t0056g0159 a0001c0001t0058g0163 a0001c0002t0001g0188 a0001c0002t0017g0037 a0001c0010t0012g0069 a0002c0003t0011g0017	11	190	0.0579	218	c.646 others(237): Show c.646+40665_646+40666insGTATATAATATATATAATATATATAC TATATATTATATATATAATATATAGTATATAATATATATAATATATATAC TATATATTATATATATAATATATAGTATATAATATATATAATATATATAC TATATATTATATATATAATATATAGTATATAATATATATATTATATATAC TATATATTATATATATAATATATAGTATATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(211): Show GAGGGAGGCAGGGAGGGAGGGAGGAGAGGGAGGCAGGGAGGGAGGGAGGG GGAGGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGG CAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGA GAGGGAGGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGGAG AGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0007 a0003c0033t0007	a0003c0033t0007g0108 a0003c0033t0007g0108	1	132	0.0076	218	c.227 others(237): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCCT CCCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCC CTCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCT CTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCCTCCCCCTCCC TCCCTCCCTGCCTCCCTCTCCTCCCTCCCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501102	A A	ATTATAAT others(211): Show ATTATAATATATAATATATATTATATTTTATATTATAATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp1 others(49): Show HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp2 HG01106.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG02027.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp2 HG02895.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp1 NA18612.hp2 NA18939.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18963.hp1 NA18968.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp2 NA19004.hp1 NA19010.hp2 NA19056.hp1 NA19062.hp1 NA19067.hp2 NA19081.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0159 others(47): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0229 a0001c0001t0003g0234 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0169 a0001c0001t0004g0193 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0004g0226 a0001c0001t0009g0214 a0001c0001t0009g0216	52	340	0.1529	218	c.17 others(237): Show c.174+9776_*174+9777insCATAAAATATAATGTATATTATATAT CATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATAT ATCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTAT ATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATT ATATATTATAATATAAAATATAATATATATTATATATTATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNX18_chr5_54512759_54551586	54514197	T T	TATATATG others(211): Show TATATATGATATATATAAATTTATATAATATATAAATATATATGATATAT ATAAATTTATATAATATATAAATATATATGATATATATAAATTTATATAA TATATAAATATATATGATATATATAAATTTATATAATATATAAATATATA TATCATATGTATAAATTTATATAATATATAAATATATATATCATATGTAT AAATTTATATATTATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18978.hp1 NA18980.hp2 NA18954.hp1 NA18978.hp1 NA18980.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0020 a0001c0005t0004 a0001c0005t0020	a0001c0005t0004g0007 a0001c0005t0004g0169 a0001c0005t0020g0022 a0001c0005t0004g0007 a0001c0005t0004g0169 a0001c0005t0020g0022	3	390	0.0077	218	c.-37 others(229): Show c.-3756_-3755insATATATGATATATATAAATTTATATAATATATAA ATATATATGATATATATAAATTTATATAATATATAAATATATATGATATA TATAAATTTATATAATATATAAATATATATGATATATATAAATTTATATA ATATATAAATATATATATCATATGTATAAATTTATATAATATATAAATAT ATATATCATATGTATAAATTTATATATTATATAA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3561		chr5	TogoVar
SORCS2_chr4_7187538_7747827	7448866	T T	TCCTCTTT others(211): Show TCCTCTTTTCCCTCCCCTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTC CCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCC TCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTT CCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCT CTTCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0023 a0001c0003t0019g0023	1	168	0.0060	218	c.548 others(237): Show c.548+52515_548+52516insTTTTCCCTCCCCTCCCTCCCTCCCTT CCTCTCTTTTCCCTCTCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT TCCTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTT TTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448890	C C	CCCTTCCT others(211): Show CCCTTCCTCTCTTTTCCCTCTCTCCCTCCCTTCCTCCCTCCCTTCCTCCC TCCCTCCCTTCCTCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCC TCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02148.hp1 HG01192.hp2 HG02148.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0023 a0001c0001 a0011c0023	a0001c0001t0003 a0011c0023t0008 a0001c0001t0003 a0011c0023t0008	a0001c0001t0003g0098 a0011c0023t0008g0122 a0001c0001t0003g0098 a0011c0023t0008g0122	2	168	0.0119	218	c.548 others(237): Show c.548+52538_548+52539insTCCTCTCTTTTCCCTCTCTCCCTCCC TTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTCC CTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104696353	T T	TATACACA others(211): Show TATACACATATGATATATGATATATATCATATACACATATGATATATGAT ATATATCATATACACATATGATATATGATATATATCATATACACATATGA TATATGATATATATCATATACACATATGATATATGATATATATCATATAC ACATATGATATATGATATATATCATATACACATATGATATATGATATATA TCATATACACATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0003 a0012c0012t0001g0003	1	134	0.0075	218	c.627 others(237): Show c.627+54402_627+54403insCACATATGATATATGATATATATCAT ATACACATATGATATATGATATATATCATATACACATATGATATATGATA TATATCATATACACATATGATATATGATATATATCATATACACATATGAT ATATGATATATATCATATACACATATGATATATGATATATATCATATACA CATATGATATATGATATATATCATATACACATATATATAATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOX5_chr12_23524504_23954670	23837279	T T	TTATATTT others(211): Show TTATATTTATATAATATATAATATATATTTATATTTATATAATATATAAG ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0057 a0001c0001t0009g0057	1	212	0.0047	218	c.481 others(235): Show c.481+8703_481+8704insTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATCTTATATATTATATAAATATAAATATATCTTATATAT TATATAAATATAAATATATATTATATATTATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPAG16_chr2_213279464_214415501	213833473	A A	ATAATAAT others(211): Show ATAATAATATATATATTATATATATATTATTATATATATTATATATATAA TAATATATATATTATATATATATTATATATAATATATAATATATATATTA TATATATATTATATATAATATATAATATATATATTATATAATATATATAT TATATTATATTATATTATATATATATTATATATAATATATATATAATATA TATATTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	86	0.0116	218	c.107 others(239): Show c.1071-29012_1071-29011insTAATAATATATATATTATATATAT ATTATTATATATATTATATATATAATAATATATATATTATATATATATTA TATATAATATATAATATATATATTATATATATATTATATATAATATATAA TATATATATTATATAATATATATATTATATTATATTATATTATATATATA TTATATATAATATATATATAATATATATATTATATATAATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46161004	C C	CGGGGGAG others(211): Show CGGGGGAGGGTAGGTGGGGGAGGTGGAGGGGGAAGGGGGAGGGGGAAGGG GGGGAGGGGGAAGGGGGAGGGGAAAGGGGGGGAGGGGGAAGGGGAGGGGG AAGGGGGGAGGGGGAAGGGGAGGGGGAAGGGGGGAGAGGGGAGGGGGGAG GGGGGACGGGGGGGAGGGGGGAGGGGGGAGGGGAGGGGGAGGGGGAAGCG GGACCGGGGGGAGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0031 a0001c0003t0005g0031	1	251	0.0040	218	c.37 others(227): Show c.374_*375insTCTCCCCTCCCCCCGGTCCCGCTTCCCCCTCCCCCT CCCCTCCCCCCTCCCCCCTCCCCCCCGTCCCCCCTCCCCCCTCCCCTCTC CCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTTCCCCCTCCCCTTCCCCC TCCCCCCCTTTCCCCTCCCCCTTCCCCCTCCCCCCCTTCCCCCTCCCCCT TCCCCCTCCACCTCCCCCACCTACCCTCCCCC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		155		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(211): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGGAGGGGGGAGGGGGAGGGG GAAGGGGGGAGGGGGAAGGGGAGGGGGGAGGGGGGAGGGGGAAGGGGAGG GGGAAGGGGGAGAGGGGAGGGGGAGGGGGGACGGGGGGAGGGGGAGGGGG AGGGGGGAGGGGGGAGCGGGAGCGGGAACGGGGGAGGGGAGAGGGGGAGG GGGAGGGGGAGTGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0197 a0001c0001t0008g0197	1	251	0.0040	218	c.35 others(227): Show c.353_*354insGCTTCCCACTCCCCCTCCCCCTCCCCCTCTCCCCTC CCCCGTTCCCGCTCCCGCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCC CGTCCCCCCTCCCCCTCCCCTCTCCCCCTTCCCCCTCCCCTTCCCCCTCC CCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTTCCCCCTCCCCCTCCCCCC TCCCCCCCTTCCCCCTCCCCCTTCCCCCTCCA	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(211): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCC CTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCC CGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG03688.hp2 NA19070.hp1 HG00140.hp2 HG03688.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	3	418	0.0072	218	c.54 others(229): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(211): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCC CTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCC CGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	218	c.54 others(229): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(211): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAG GGGAGGGGAGGGGAGGTGAGGGGCTGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	260	0.0039	218	c.138 others(237): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCAGCCCCTCACCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167205215	T T	TTATATAT others(211): Show TTATATATATTTTATATCTATAATATATATTATATATTATAGATATTTTA TATCTATAATATATATTATATATTATAGATATTTTATATCTATAATATAT ATTATATATTATAGATATTTTATATCTATAATATATATTATATATTATAT ATATTTTATATCTATAATATATATTATATATTATATATATTTTATATCTA TAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	144	0.0069	218	c.189 others(237): Show c.189+28769_189+28770insTAATATATAATATATATTATAGATAT AAAATATATATAATATATAATATATATTATAGATATAAAATATATATAAT ATATAATATATATTATAGATATAAAATATCTATAATATATAATATATATT ATAGATATAAAATATCTATAATATATAATATATATTATAGATATAAAATA TCTATAATATATAATATATATTATAGATATAAAATATATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
STXBP3_chr1_108741674_108814523	108772352	A A	ATATCTAT others(211): Show ATATCTATATATCATATATAAATACATATGATATCTATATATCATATATA AATACATATGATATCTATATATCATATATAAATACATATGATATCTATAT ATCATATATAAATACATATATCTATCTATATATCATATATAAATACATAT GATATCTATCTATATATCATATATAAATACATATGATATCTATCTGTATC ATATATAAATACATATATC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	334	0.0030	218	c.439 others(233): Show c.439-308_439-307insATATATCATATATAAATACATATGATATCT ATATATCATATATAAATACATATGATATCTATATATCATATATAAATACA TATGATATCTATATATCATATATAAATACATATATCTATCTATATATCAT ATATAAATACATATGATATCTATCTATATATCATATATAAATACATATGA TATCTATCTGTATCATATATAAATACATATATCTATCT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUMF1_chr3_4356146_4472269	4456836	A A	ATATATAT others(211): Show ATATATATACGTGTGTGTGTATATATACGTGTATATATATACGTGTGTGT GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATATACGTGTATATATATACGTGTGTGTATATATAT ACGTGTATATATATACGTGTGTGTATATATATACGTGTATATATATACGT GTGTGTATATATATACGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0368	1	392	0.0026	218	c.271 others(235): Show c.271-3788_271-3787insCACGTATATATATACACACACGTATATA TATACACGTATATATATACACACACGTATATATATACACGTATATATATA CACACACGTATATATATACACGTATATATATACACGTATATATATACACG TATATATACACACACACGTATATATATACACGTATATATACACACACACG TATATATATACACGTATATATACACACACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUSD1_chr9_112035783_112180297	112138238	T T	TATATATA others(211): Show TATATATATATATATATATATATATATATATGTATATACACATATATATA TGTATATACACATATATATATGTATATACACATATATATATGTATATACA CATATATATATGTATATACACATATATATATGTATATACACATATATATA TGTATATACACATATATATATGTATATACACATATATATATATGTGTATA CACATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 NA19030.hp2 HG02145.hp2 HG02922.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007	3	338	0.0089	218	c.706 others(235): Show c.706+4081_706+4082insGTATATATATATATATGTGTATACACAT ATATATATATGTGTATATACATATATATATGTGTATATACATATATATAT GTGTATATACATATATATATGTGTATATACATATATATATGTGTATATAC ATATATATATGTGTATATACATATATATATGTGTATATACATATATATAT GTGTATATACATATATATATATATATATATATATATATAT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	5/16			chr9	TogoVar
SYK_chr9_90796819_90903549	90884217	G G	GCATACAC others(211): Show GCATACACATACGTGTATATATACACGCATACACATACGTGTATATATAC ACGCATACACATACGTGTATATATACACGCATACACATACGTGTATATAT ACACGCATACACATACGTGTATATATACACGCATACACATACGTGTATAT ATACACGCATATACACATACACATACGTGTATATATACACATACACATAC ACATACGTGTATATACACA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0038 a0001c0008t0038	a0001c0008t0038g0065 a0001c0008t0038g0065	1	376	0.0027	218	c.158 others(237): Show c.1582-3528_1582-3527insCACATACGTGTATATATACACGCATA CACATACGTGTATATATACACGCATACACATACGTGTATATATACACGCA TACACATACGTGTATATATACACGCATACACATACGTGTATATATACACG CATACACATACGTGTATATATACACGCATATACACATACACATACGTGTA TATATACACATACACATACACATACGTGTATATACACACATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYT3_chr19_50616977_50644881	50629722	G G	GGGAGTCC others(211): Show GGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGAC AAGCCCCTCCTCCCTCAGACCCGGGAGTCCAGGCCCCCAGCCCCTCCTCC TTCAGACCCGGGAGTCCAGGACAAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGAAGTCCAGACCCCCAGC CCCTCCTCCCTCAGACCCA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0145 a0001c0005t0001g0145	1	388	0.0026	218	c.106 others(233): Show c.1062+61_1062+62insTGGGTCTGAGGGAGGAGGGGCTGGGGGTCT GGACTTCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTTGTCCTGGACTCCCGGGTCTGAAGGAGGAGGGGC TGGGGGCCTGGACTCCCGGGTCTGAGGGAGGAGGGGCTTGTCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCC	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding	5/10			chr19	TogoVar
TAF4_chr20_61969798_62070881	61982097	A A	AACCCACC others(211): Show AACCCACCGGAGAGGAGACACCAAAACCCACACAACCTACATCCACCCGA GAGGAGACACCCAACCTATACCCCACCAGAGAGGAGACACCAAACCCACA CCCCACGAGAGAGGAGACACCAAACCCATACCCCACCAGAGACGAGACAC CAAAACCCACACAACCGACACCCACCCAAGAGGAGACACCAAACCCACAC CCACCTGAGAGGAAACACC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0015 a0002c0007t0001g0015	1	314	0.0032	218	c.309 others(237): Show c.3091-5763_3091-5762insGGTGTTTCCTCTCAGGTGGGTGTGGG TTTGGTGTCTCCTCTTGGGTGGGTGTCGGTTGTGTGGGTTTTGGTGTCTC GTCTCTGGTGGGGTATGGGTTTGGTGTCTCCTCTCTCGTGGGGTGTGGGT TTGGTGTCTCCTCTCTGGTGGGGTATAGGTTGGGTGTCTCCTCTCGGGTG GATGTAGGTTGTGTGGGTTTTGGTGTCTCCTCTCCGGTGGGT	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48735788	G G	GCAGGAGG others(211): Show GCAGGAGGAATGAGAATCACACTCCTAGAGTCCAGAGTCCATCCCCCGCA GGAGGAATGAGAATCGCACTCCCAGAGTCCAGAGTCCATCCCCCCAGGAG GAATGAGAATCGCACTCCTAGAGTCCATCCCCCGCAGGAGGAATAAGAAT CACACTCCTAGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCA CTCCTAGAGTCCATCCCCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0141 a0001c0001t0031g0141	1	258	0.0039	218	c.391 others(237): Show c.391-14005_391-14004insGCAGGAGGAATGAGAATCGCACTCCC AGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAG TCCATCCCCCGCAGGAGGAATAAGAATCACACTCCTAGAGTCCAGAGTCC ATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTCCATCCCCCCAGG AGGAATGAGAATCACACTCCTAGAGTCCAGAGTCCATCCCCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D2B_chr15_77989985_78082711	77992779	C C	CCCACTCC others(211): Show CCCACTCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCCCACTCCCC CCCACTCCCCCCCACTCCCCCCCACTCCCCCCCCCACTCCACTCCCCCCC ACTCCCCCCACTCCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACT CCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCAC TCCCCCCCACTCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0156 a0001c0001t0010g0156	1	280	0.0036	218	c.53 others(229): Show c.5380_*5381insAGTGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGG GGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTG GGGGGGAGTGGAGTGGGGGGGGGAGTGGGGGGAGTGGGGGGGAGTGGAGT GGGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGGGGGGG AGTGGGGGGGAGTGGGGGGGAGTGGGGGGAGTGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2205		chr15	TogoVar
TBCD_chr17_82747065_82950914	82785405	G G	GACCCATC others(211): Show GACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTGACTGGGACCACTG GACCCGACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTGACTGGGAC CACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTG GGACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTG ACTGGGACCACTGGATCCC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0315 a0002c0003t0015g0315	1	318	0.0031	218	c.771 others(235): Show c.771+3706_771+3707insGTCCATGCTGTGTGACTGGGACCACTGG ACCCGACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTGACTGGGACC ACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGG GACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGA CTGGGACCACTGGATCCCACCCATCGCAGCGGGAGGGGGG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82785405	G G	GACCCATC others(211): Show GACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGG ACCCGACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTGACTGGGACC ACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGG GACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTG ACTGGGACCACTGGATCCC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	318	0.0031	218	c.771 others(235): Show c.771+3760_771+3761insGTCCATGCTGTGTGACTGGGACCACTGG ATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCA CTGGATCCCACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTGACTGG GACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGA CTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGGGG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82785405	G G	GACCCATC others(211): Show GACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGG ACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCA CTGGATCCCACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTGACTGG GACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTG ACTGGGACCACTGGATCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0278 a0002c0007t0004g0278	1	318	0.0031	218	c.771 others(235): Show c.771+3812_771+3813insGGGTCCATGCTGTGTGACTGGGACCACT GGATCCCACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTGACTGGGA CCACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACT GGGACCACTGGACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGT GACTGGGACCACTGGATCCCACCCATCGCAGCGGGAGGGG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82785421	A A	AGGGGGGG others(211): Show AGGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCA GCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCACCCAT CGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCAC CCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGATC CCACCCATCGCAGCGGGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0299 a0002c0003t0003g0299	1	318	0.0031	218	c.771 others(235): Show c.771+3706_771+3707insGTCCATGCTGTGTGACTGGGACCACTGG ACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCA CTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGG ACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGAC TGGGACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TERT_chr5_1248167_1300068	1272724	A A	ACCCCTGT others(211): Show ACCCCTGTGACCAACCACCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCTACGACCGCCATCCACAGTCACCACACATCAGACC CCCATGACCAACCACCATCTAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACATCAGAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	392	0.0026	218	c.228 others(235): Show c.2287-445_2287-444insGTCTGATGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGTGGTGACTAGATGGTGGTTGGTCATGGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGTGGTTGGTCACAGGGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TEX2_chr17_64142227_64268260	64219505	C C	CATAAAAT others(211): Show CATAAAATAAAATAACATAACATAAAATAAATAAAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATATAAAATAAAATATAAAATAAAATATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATATAAAATAAA ATATAAAATAAAATATAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	224	0.0045	218	c.-25 others(235): Show c.-25-5264_-25-5263insTTTATATTTTATTTTATATTTTATTTTA TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATATTTTATTTTATATTTTATTTTATATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTTTATTTATTTTATGTTATGTTATTTTATTTTAT	TEX2	ENSG00000136478.9	transcript	ENST00000584379.6	protein_coding	1/11			chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747572	C C	CTGGGGTA others(211): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0254	1	314	0.0032	218	c.189 others(233): Show c.189-754_189-753insTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM67_chr8_93749894_93823121	93808464	T T	TATCTATT others(211): Show TATCTATTATAGATATTTATCTATAATAGATCTATTATAGATATTTATCT ATAATAGATCTATTATAGATATTTATCTATAATAGATCTATTATAGATAT TTATCTATAATAGATCTATTATAGATATTTATCTATAATAGATCTATTAT AGATATTTATCTATAATAGATCTATTATAGATCTATTATAGATATTTATC TATAATAGATCTATTATAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0276 a0002c0002t0001g0276	1	318	0.0031	218	c.244 others(235): Show c.2440-335_2440-334insATTTATCTATAATAGATCTATTATAGAT ATTTATCTATAATAGATCTATTATAGATATTTATCTATAATAGATCTATT ATAGATATTTATCTATAATAGATCTATTATAGATATTTATCTATAATAGA TCTATTATAGATCTATTATAGATATTTATCTATAATAGATCTATTATAGA TCTATTATAGATATTTATCTATAATAGATCTATTATAGAT	TMEM67	ENSG00000164953.17	transcript	ENST00000453321.8	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr8	TogoVar
TMTC2_chr12_82681906_83139866	82876046	T T	TGGTGGTG others(211): Show TGGTGGTGGTGGTGGTGATGATGATGATGGTGATTAGTATTCATAATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGATTAGTATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAAT GGTGGTGGTGGTGGCGGTGGTGGTGTTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGCGGTGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0003 a0001c0005t0026g0003	1	96	0.0104	218	c.654 others(237): Show c.654+18482_654+18483insATGATGATGATGGTGATTAGTATTCA TAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGATTAGTATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTAT TAGTAATGGTGGTGGTGGTGGCGGTGGTGGTGTTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGCGGTGGCGGTGGTGGTGGTGGTG	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMTC2_chr12_82681906_83139866	82997352	A A	ATATATAT others(211): Show ATATATATATATATGTGTATATATATATGTGTATATATATATGTGTGTAT ATATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	96	0.0104	218	c.207 others(239): Show c.2070+11333_2070+11334insGTGTATATATATATGTGTGTATAT ATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATATGTGTATATATATAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMTC2_chr12_82681906_83139866	82997352	A A	ATATATAT others(211): Show ATATATATATATGTGTATATATATATGTGTATATATATATGTGTGTATAT ATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03579.hp1 HG02280.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0031 a0001c0001t0003g0069 a0001c0001t0001g0031 a0001c0001t0003g0069	2	96	0.0208	218	c.207 others(239): Show c.2070+11317_2070+11318insGTGTATATATATATGTGTATATAT ATATGTGTGTATATATATATATGTGTATATATATATGTGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATATGTGTATATATATAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TP53AIP1_chr11_128930370_128947871	128930513	A A	AGGGTTAA others(211): Show AGGGTTAAGGAGGCCGGGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGG TTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTA GGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGGCCAGGGGGTTAGG GAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	466	0.0022	218	c.50 others(229): Show c.5077_*5078insCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCCTGGCC TCCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTAACCCCGGCCTCCC TAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAA CCCCCAGCCTCCCTACCCCCGGCCTCCTTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4856		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188151142	A A	AGGGGAGT others(211): Show AGGGGAGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGTGAGAG GGGAGAGAGGGGTGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGGAGAGTGGGGGTGAGAGGGGAGTGAG TGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAGGGGAGTGAGAGGGGA GGGGTGAGAGTGGGATGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	228	0.0044	218	c.37 others(229): Show c.3770_*3771insGGGGAGTGAGAAGGGGAGTGAGAGTGGGGTGAGA AGGGGAGTGTGAGAGGGGAGAGAGGGGTGTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGAGAGTGGGGG TGAGAGGGGAGTGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAG GGGAGTGAGAGGGGAGGGGTGAGAGTGGGATGAG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3400		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152113	T T	TGGGGGTG others(211): Show TGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGG TTGAGAAGGGGAGTGATAGTGGGGGTGAGAAGGGGAGGGAGAGAGGGGTT GGGAAGGGGAGTGAGAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	228	0.0044	218	c.47 others(229): Show c.4741_*4742insGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAGTGAGAGTGGGGGTGAGAAGGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGAGGGGTTGAGAAGGGGAGTGATAGTGGGGGTGAGAAGGGG AGGGAGAGAGGGGTTGGGAAGGGGAGTGAGAGTG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4371		chr4	TogoVar
TRPC4AP_chr20_34997404_35097807	35097521	A A	ATATACAT others(211): Show ATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATAC ATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATAC ACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGT GTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTAT ATACATATACACGCGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	334	0.0030	218	c.-47 others(229): Show c.-4741_-4740insCACACGCGTGTATATGTATATACACACGCGTGTA TATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTA TATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACA CACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGCG TGTATATGTATATACACACGCGTGTATATGTATA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4715		chr20	TogoVar
TRPV5_chr7_142903101_142938746	142924345	T T	TATATACA others(211): Show TATATACATATACATGTATATATATACATATATATATATACATATACATG TATATATATACATATATATATACATATACATGTATATATATACATATATA TATATACACATATACATGTATATATATACATATATATACATATACATGTA TATATATACATATATATACATATACATGTATATATATACATATATATACA TATACATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0051 a0002c0003t0002g0051	1	253	0.0040	218	c.112 others(237): Show c.1122+1183_1122+1184insGTATATATATACATGTATATGTATAT ATATGTATATATATACATGTATATGTATATATATGTATATATATACATGT ATATGTATATATATGTATATATATACATGTATATGTGTATATATATATAT GTATATATATACATGTATATGTATATATATATGTATATATATACATGTAT ATGTATATATATATATGTATATATATACATGTATATGTATAT	TRPV5	ENSG00000127412.7	transcript	ENST00000265310.6	protein_coding	8/14			chr7	TogoVar
TTLL8_chr22_50013575_50063298	50028631	T T	TACCCTCG others(211): Show TACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTC GTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAG ACCCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCTA TCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCACAC CGTCCTGAAGACCCCACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0193 a0004c0004t0002g0193	1	224	0.0045	218	c.225 others(237): Show c.2251+1798_2251+1799insGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATAGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACG AGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTG TGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028631	T T	TACCCTCG others(211): Show TACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCCA TCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACC GTCCTAAAGACCCCCACAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	224	0.0045	218	c.225 others(237): Show c.2251+1798_2251+1799insGTGTGGGGGTCTTTAGGACGGTGTGA TGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGGT CTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACG AGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGT GTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028631	T T	TACCCTCG others(211): Show TACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCCA TCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCCATCACAC CATCCTGAAGACCCCACAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	224	0.0045	218	c.225 others(237): Show c.2251+1798_2251+1799insGTGTGGGGTCTTCAGGATGGTGTGAT GGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGT CTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACG AGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGT GTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028644	A A	ACCCCCAT others(211): Show ACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCA TCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACC GTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC CACACACCCTCGTAAAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0002 a0011c0021t0002	a0011c0021t0002g0049 a0011c0021t0002g0049	1	224	0.0045	218	c.225 others(237): Show c.2251+1785_2251+1786insGTCTTTACGAGGGTGTGTGGGGGTCT TCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGAC GGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGA TGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029107	C C	CCACACAC others(211): Show CCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACA CCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGT AAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCATCA CACCGTCCTGAAGACCCCA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	224	0.0045	218	c.225 others(237): Show c.2251+1322_2251+1323insTGGGGTCTTCAGGACGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGG TGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBGCP5_chr15_22994177_23044569	23042330	G G	GGGACTTC others(211): Show GGGACTTCATAACGCCACCTGGCCAGAGGTGCCCGGGGGGGACTTCATAA CCATACCTGGCCAGAGGTGCCGAGGGGACATCATAACCACACCTGGCCAG AGGTGCCGGGGGGACAACATAACCACACCTGGCCAGAGGTGCCCGGAGGA CTTCATAACCACACCTGTCCAGAGGTGCCGGGAGGACTTCATAACCACAC CTGGCCAGAGGTGCCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	351	0.0029	218	c.-27 others(229): Show c.-2788_-2787insGCCCGGCACCTCTGGCCAGGTGTGGTTATGAAGT CCTCCCGGCACCTCTGGACAGGTGTGGTTATGAAGTCCTCCGGGCACCTC TGGCCAGGTGTGGTTATGTTGTCCCCCCGGCACCTCTGGCCAGGTGTGGT TATGATGTCCCCTCGGCACCTCTGGCCAGGTATGGTTATGAAGTCCCCCC CGGGCACCTCTGGCCAGGTGGCGTTATGAAGTCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2762		chr15	TogoVar

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