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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SNTG2_chr2_945849_1372613	1354629	TTTCTCAT others(108): Show TTTCTCATCTGTAAAGTGGGTACGTTTCCATGGGGGAAGTGGAAGACCCC GCGCTGGAGCTCAGGGACTGGCTGTTCCGAGGCAGAGCGGCTGACTGAGT TCCCTGAGCCTCCGCG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	188	0.0053	-115	c.148 others(21): Show c.1489-12684_1489-12570del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7482637	TGTTTAGA others(108): Show TGTTTAGACCTGTATCCCCGCTGCGGACACCCCTGGCTGCAGTTCAGACC TGTATCCCCACTGCGGACACCCCTGACGCTGTTCAGACCTGTATCCCCGC TGCGGACACCCCTGAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp1 HG02886.hp2 others(2): Show HG02451.hp2 HG02886.hp1 HG02886.hp2 NA18906.hp2 NA19030.hp1	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0005 a0001c0029 a0001c0053 others(2): Show a0001c0005 a0001c0029 a0001c0053 a0003c0012 a0014c0052	a0001c0005t0003 a0001c0029t0061 a0001c0053t0001 others(2): Show a0001c0005t0003 a0001c0029t0061 a0001c0053t0001 a0003c0012t0046 a0014c0052t0003	a0001c0005t0003g0032 a0001c0029t0061g0162 a0001c0053t0001g0044 others(2): Show a0001c0005t0003g0032 a0001c0029t0061g0162 a0001c0053t0001g0044 a0003c0012t0046g0033 a0014c0052t0003g0030	5	168	0.0298	-115	c.549 others(19): Show c.549-48891_549-48777del		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA13_chr13_24155720_24312069	24190243	ATATCATA others(108): Show ATATCATATATAATATACATAATATATATTATTATATATAATATATAATA TTATATATTATTATATATAATATATAATATTATATATTATTATATATAAT ATATAATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02970.hp1 others(1): Show HG02109.hp2 HG02630.hp1 HG02970.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0001c0050 others(1): Show a0001c0004 a0001c0005 a0001c0050 a0002c0007	a0001c0004t0071 a0001c0005t0024 a0001c0050t0002 others(1): Show a0001c0004t0071 a0001c0005t0024 a0001c0050t0002 a0002c0007t0087	a0001c0004t0071g0120 a0001c0005t0024g0353 a0001c0050t0002g0354 others(1): Show a0001c0004t0071g0120 a0001c0005t0024g0353 a0001c0050t0002g0354 a0002c0007t0087g0352	4	353	0.0113	-115	c.-11 others(21): Show c.-112+29315_-112+29429del		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPPL3_chr12_120757510_120909358	120852339	TATATACA others(108): Show TATATACATATTTTACATATATGAAATATATGTATATATAATATACATAT TTTACATATATGAAATATATGCATATATAATATACATATTTTACATATGA AATATATGTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02083.hp2 HG03209.hp2 others(1): Show HG01884.hp1 HG02083.hp2 HG03209.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0031 a0001c0001t0003 a0001c0001t0004 a0001c0001t0031	a0001c0001t0003g0276 a0001c0001t0003g0316 a0001c0001t0004g0122 others(1): Show a0001c0001t0003g0276 a0001c0001t0003g0316 a0001c0001t0004g0122 a0001c0001t0031g0219	4	237	0.0169	-115	c.24- others(17): Show c.24-41568_24-41454del		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120852371	TATATATA others(108): Show TATATATAATATACATATTTTACATATATGAAATATATGCATATATAATA TACATATTTTACATATGAAATATATGTATATATAATATACATATTTTACA TATATGAAATATATGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0220 a0001c0001t0037g0220	1	216	0.0046	-115	c.24- others(17): Show c.24-41600_24-41486del		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SUPT5H_chr19_39440582_39481670	39476558	TCATTGGA others(108): Show TCATTGGAATCTGAGTAGAGTCTGGGGGAGGGTCCCCACCTTCCTGTACC TCCTCCCCACAGCTTGCTTTTGTTGTACCGTCTTTCAATAAAAAGAAGCT GTTTGGTCTAAAAGTG	T T	splice_region_variant splice_region_variant	LOW	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0008 a0001c0002t0007g0008	1	376	0.0027	-115	c.16 others(9): Show c.160_*274del		SUPT5H	ENSG00000196235.14	transcript	ENST00000432763.7	protein_coding	30/30						chr19	TogoVar
TCF19_chr6_31153589_31169215	31168920	CAAGGCCT others(108): Show CAAGGCCTTTTTGTAGTTCTGAAGCCTCAAGGAAGTGTTTCAATGGTGCT TGATCATATCAATTTCAAATAGGCTGTTTTCATCCCCAACTTCTGCTCAG CCAATAACTCAAACTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0003 a0001c0001t0020g0003	1	450	0.0022	-115	c.62 others(11): Show c.6204_*6318del		TCF19	ENSG00000137310.13	transcript	ENST00000376257.8	protein_coding					4706		chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305398	ATATAAAT others(108): Show ATATAAATATATTATTAAATTATATATTTATATATATAAATATATATTAA ATTATATATTTATATATATAAATATATATTAAATTATATATATAAATATA TATTAAATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02738.hp2 HG03491.hp1 others(1): Show HG01433.hp1 HG02738.hp2 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0290 a0001c0001t0002g0011 a0001c0001t0002g0290	4	346	0.0116	-115	c.285 others(17): Show c.285+5675_285+5789del		TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6						chr6	TogoVar
THSD7B_chr2_136760545_137682718	136890304	CTTCTTCT others(108): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTC TTCCTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG03471.hp1 others(1): Show HG02257.hp2 HG02451.hp2 HG03471.hp1 HG03540.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0022	a0001c0012 a0002c0006 a0006c0023 others(1): Show a0001c0012 a0002c0006 a0006c0023 a0022c0022	a0001c0012t0011 a0002c0006t0001 a0006c0023t0002 others(1): Show a0001c0012t0011 a0002c0006t0001 a0006c0023t0002 a0022c0022t0003	a0001c0012t0011g0095 a0002c0006t0001g0015 a0006c0023t0002g0013 others(1): Show a0001c0012t0011g0095 a0002c0006t0001g0015 a0006c0023t0002g0013 a0022c0022t0003g0097	4	59	0.0678	-115	c.139 others(17): Show c.139+7989_139+8103del		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
TLN2_chr15_62385550_62849631	62689948	CCCTCCCG others(108): Show CCCTCCCGGATGGGGCGGCTGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp1 HG03209.hp1 HG02109.hp1 HG02976.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0056 a0001c0057 a0002c0030 a0001c0056 a0001c0057 a0002c0030	a0001c0056t0007 a0001c0057t0001 a0002c0030t0029 a0001c0056t0007 a0001c0057t0001 a0002c0030t0029	a0001c0056t0007g0098 a0001c0057t0001g0034 a0002c0030t0029g0071 a0001c0056t0007g0098 a0001c0057t0001g0034 a0002c0030t0029g0071	3	142	0.0211	-115	c.111 others(19): Show c.1114-2882_1114-2768del		TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	12/58					INFO_REALIGN_3_PRIME	chr15	TogoVar
TMEM120B_chr12_121707752_121787068	121752614	ATGGTGGA others(108): Show ATGGTGGAGTATGTCTTTAGTCCCAGCTACTCGGAAGGGTGAGACAGGAG AATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTTGAGATCGCTGCA CTCCAGCCTGGGTGAC	A A	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0225 a0002c0002t0008g0225	1	312	0.0032	-115	c.461 others(15): Show c.461+392_461+506del		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	5/11						chr12	TogoVar
TMEM132E_chr17_34574582_34644318	34638731	TGCCTGCC others(108): Show TGCCTGCCCTGCCAAGGATCTTGCTGTGGACGAAATATCTGGGGGTTAGG GGGACAGTTGTAGCATCTGCTGGCATTCGGGTGCCTCCCAGGACCTGGGA GCTGACTCTACAGAGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02886.hp1 HG02572.hp1 HG02886.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0080 a0002c0004t0088 a0002c0004t0080 a0002c0004t0088	a0002c0004t0080g0124 a0002c0004t0088g0099 a0002c0004t0080g0124 a0002c0004t0088g0099	2	402	0.0050	-115	c.50 others(9): Show c.501_*615del		TMEM132E	ENSG00000181291.8	transcript	ENST00000631683.2	protein_coding	9/9				501	INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM203_chr9_137199082_137210648	137208168	AGCCGGGC others(108): Show AGCCGGGCACTGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGA GGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGTGAAACCTCGTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	392	0.0026	-115	c.-28 others(11): Show c.-2869_-2755del		TMEM203	ENSG00000187713.7	transcript	ENST00000343666.6	protein_coding					2521		chr9	TogoVar
TMEM63C_chr14_77176798_77264495	77221092	ATGCCCTG others(108): Show ATGCCCTGCCTCCCACTCACGCCTCCTCTCTCACTTACACCCCACCTCCC ACTCACGCCTCCCCTCCCACTCATGCCCCACCTCCCACTCACACCTCCTC TCTCATTCACACCCCG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0093 a0001c0002t0019g0093	1	230	0.0043	-115	c.312 others(17): Show c.312+1006_312+1120del		TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23						chr14	TogoVar
TPD52L1_chr6_125148773_125269407	125260909	GAAAGAAA others(108): Show GAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02258.hp1 others(28): Show HG01884.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0001c0001t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0001g0115 a0001c0001t0001g0189 a0001c0001t0001g0190 others(27): Show a0001c0001t0001g0115 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0290 a0001c0001t0001g0310 a0001c0001t0003g0077 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0239 a0001c0001t0003g0300 a0002c0003t0001g0001 a0002c0003t0001g0104 a0002c0003t0001g0107	31	318	0.0975	-115	c.487 others(17): Show c.487-1910_487-1796del		TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
TRARG1_chr17_1274662_1305978	1286614	GGGGTGTT others(108): Show GGGGTGTTGTTTTCGGCCTGTGGGGTGTTATCGGCCTGTGGGGTGTTGTT ATTGGCCTGAGGGGTGTTATCAGCCTGTGGGGTGTTGTTGGCCTGTGGGT GTTGTTTTCGGCCTGC	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	400	0.0025	-115	c.387 others(17): Show c.387+6258_387+6372del		TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr17	TogoVar
TRERF1_chr6_42219931_42456926	42262434	CAGAGAGA others(108): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0043 a0001c0004t0043	a0001c0004t0043g0127 a0001c0004t0043g0127	1	49	0.0204	-115	c.188 others(17): Show c.1884+771_1884+885del		TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17						chr6	TogoVar
TUBGCP2_chr10_133273635_133313872	133291833	CCCATGTC others(108): Show CCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCAT GTCCCTCCGTGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	260	0.0038	-115	c.121 others(17): Show c.1214+551_1214+665del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292081	CTCCGTGT others(108): Show CTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCC GTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCG TGTCCCCCGTGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 NA20129.hp2 HG02451.hp2 HG02922.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0012 a0001c0002t0003g0077 a0001c0002t0003g0012 a0001c0002t0003g0077	3	274	0.0109	-115	c.121 others(17): Show c.1214+303_1214+417del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP5_chr15_22994177_23044569	23044338	GTATCATA others(108): Show GTATCATAATCCGACCTGGCCAGAGATGCTGGGGGGACATCATAACCCCA CTTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTG CTGGGGGGCGGGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0264 a0002c0004t0002g0264	1	324	0.0031	-115	c.-49 others(11): Show c.-4910_-4796del		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					4770		chr15	TogoVar
UCK2_chr1_165822614_165916618	165870263	TAATTTTA others(108): Show TAATTTTAATATGTGAATGAAGATACTTTTGCTCACAGGAGTTTTTGAGC CTCAGTGTCTGGCTACAGGGTTCTCATTTGAATGTCCAGTTTTCCCAGTA CCATTTGCTGGATGAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01192.hp2 HG01943.hp1 others(10): Show HG00673.hp2 HG01192.hp2 HG01943.hp1 HG02273.hp1 HG02523.hp1 HG03491.hp1 HG03492.hp2 NA18945.hp1 NA18946.hp2 NA19002.hp2 NA19065.hp1 NA19075.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 others(10): Show a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0008g0016 a0001c0001t0008g0030 a0001c0001t0008g0037 a0001c0001t0008g0046 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0153 a0001c0001t0008g0166 a0001c0001t0008g0232 a0001c0001t0008g0255	13	320	0.0406	-115	c.100 others(19): Show c.100-19913_100-19799del		UCK2	ENSG00000143179.16	transcript	ENST00000367879.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
UCK2_chr1_165822614_165916618	165870291	TTGCTCAC others(108): Show TTGCTCACAGGAGTTTTTGAGCCTCAGTGTCTGGCTACAGGGTTCTCATT TGAATGTCCAGTTTTCCCAGTACCATTTGCTGGATGACAATTTTAATATG TGAATGAAGATACTTC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	320	0.0031	-115	c.100 others(19): Show c.100-19752_100-19638del		UCK2	ENSG00000143179.16	transcript	ENST00000367879.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
ULK4_chr3_41241599_41967103	41306199	CACCCCGC others(108): Show CACCCCGCCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	70	0.0143	-115	c.367 others(21): Show c.3679-56740_3679-56626del		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36						chr3	TogoVar
VSTM2A_chr7_54537375_54576067	54546100	GAGAGGGA others(108): Show GAGAGGGAGGGAAAGGAAGAGAGGGAGAGAGGAGTAGAGAAGAGGCAGGG AGAGGAGAGAAGGAGAGTGGAGAAGGGAAGGAAAAGGAGAGAAGAGAGGA AGCGAGGAGAGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	380	0.0026	-115	c.247 others(15): Show c.247-844_247-730del		VSTM2A	ENSG00000170419.11	transcript	ENST00000402613.4	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
XIRP2_chr2_166883480_167264753	167214111	AAGGAAGG others(108): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGCAAAGAGAAAGAGAAAGAAGGAA AGAAAGAGAAAGAAGGAAGGAAGGAAGGAAAGAGAGAGAGAAAGAGAGGG AGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02055.hp1 HG02109.hp1 others(15): Show HG00558.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02647.hp1 HG02818.hp1 HG02886.hp2 HG03195.hp1 HG03471.hp2 NA18906.hp2 NA18947.hp2 NA18962.hp1 NA18992.hp1 NA18992.hp2 NA19001.hp2 NA19043.hp2 NA19082.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0020 a0002c0002 a0006c0006 others(1): Show a0001c0020 a0002c0002 a0006c0006 a0007c0008	a0001c0020t0001 a0002c0002t0002 a0002c0002t0005 others(3): Show a0001c0020t0001 a0002c0002t0002 a0002c0002t0005 a0006c0006t0002 a0007c0008t0007 a0007c0008t0009	a0001c0020t0001g0144 a0002c0002t0002g0020 a0002c0002t0002g0084 others(15): Show a0001c0020t0001g0144 a0002c0002t0002g0020 a0002c0002t0002g0084 a0002c0002t0002g0147 a0002c0002t0002g0171 a0002c0002t0002g0186 a0002c0002t0005g0002 a0002c0002t0005g0003 a0002c0002t0005g0066 a0002c0002t0005g0104 a0002c0002t0005g0111 a0002c0002t0005g0114 a0002c0002t0005g0166 a0006c0006t0002g0018 a0006c0006t0002g0098 a0007c0008t0007g0064 a0007c0008t0007g0065 a0007c0008t0009g0063	18	190	0.0947	-115	c.723 others(17): Show c.723+3243_723+3357del		XIRP2	ENSG00000163092.22	transcript	ENST00000409195.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
XKR6_chr8_10891045_11206833	11178598	CACACAAA others(108): Show CACACAAATATATATATATATACACACACAAATATATATATACACATACA CACAAATATATATATATACACAGAGATAAATATATATATATATATGTATA TCGGGGGGATGGAGGA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01891.hp2 others(21): Show HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0027 a0001c0001t0033 a0001c0001t0040	a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0003g0048 others(21): Show a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0003g0048 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0006g0099 a0001c0001t0006g0102 a0001c0001t0007g0116 a0001c0001t0008g0090 a0001c0001t0011g0098 a0001c0001t0011g0101 a0001c0001t0016g0069 a0001c0001t0016g0100 a0001c0001t0016g0103 a0001c0001t0018g0005 a0001c0001t0019g0032 a0001c0001t0019g0033 a0001c0001t0027g0003 a0001c0001t0033g0022 a0001c0001t0040g0061	24	178	0.1348	-115	c.764 others(19): Show c.764+21863_764+21977del		XKR6	ENSG00000171044.11	transcript	ENST00000416569.3	protein_coding	1/2						chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40601590	GAAAGAAA others(108): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18966.hp2 HG02622.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0059 a0001c0001t0004g0104 a0001c0001t0001g0059 a0001c0001t0004g0104	2	226	0.0088	-115	c.578 others(19): Show c.578-20444_578-20330del		ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6						chr8	TogoVar
ZNF48_chr16_30390420_30405108	30390877	GCCTCCCA others(108): Show GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGA GACAGGGTTTCAATGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCACCTTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	354	0.0028	-115	c.-47 others(11): Show c.-4716_-4602del		ZNF48	ENSG00000180035.13	transcript	ENST00000613509.2	protein_coding					4542		chr16	TogoVar
ZNF516_chr18_76352682_76500242	76392836	CGGGAAGG others(108): Show CGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18961.hp1 HG03942.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0121 a0001c0001t0107 a0001c0001t0121	a0001c0001t0107g0176 a0001c0001t0121g0180 a0001c0001t0107g0176 a0001c0001t0121g0180	2	323	0.0062	-115	c.181 others(21): Show c.1811-12648_1811-12534del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76392887	AGGCAGGT others(108): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0066 a0001c0004t0066	a0001c0004t0066g0156 a0001c0004t0066g0156	1	267	0.0037	-115	c.181 others(21): Show c.1811-12699_1811-12585del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393075	AGGTGGTC others(108): Show AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0064 a0001c0028t0064	a0001c0028t0064g0130 a0001c0028t0064g0130	1	337	0.0030	-115	c.181 others(21): Show c.1811-12887_1811-12773del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393260	AGGCAGGT others(108): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18967.hp2 NA19011.hp2 NA18946.hp1 NA18967.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0035 a0001c0001t0004 a0001c0001t0035	a0001c0001t0004g0204 a0001c0001t0004g0216 a0001c0001t0035g0313 a0001c0001t0004g0204 a0001c0001t0004g0216 a0001c0001t0035g0313	3	316	0.0095	-115	c.181 others(21): Show c.1811-13072_1811-12958del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393444	CGGGAAGG others(108): Show CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0031 a0001c0016t0031	a0001c0016t0031g0073 a0001c0016t0031g0073	1	338	0.0030	-115	c.181 others(21): Show c.1811-13256_1811-13142del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393591	GGGTGGTC others(108): Show GGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0030 a0001c0001t0016g0030	1	300	0.0033	-115	c.181 others(21): Show c.1811-13403_1811-13289del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394103	GGTCAGGT others(108): Show GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAGGGCAGGTA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0268 a0001c0001t0015g0268	1	344	0.0029	-115	c.181 others(21): Show c.1811-13915_1811-13801del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394615	AGGTGGTC others(108): Show AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03471.hp1 NA20129.hp1 HG01175.hp2 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0052 a0001c0004 a0001c0052	a0001c0004t0068 a0001c0004t0075 a0001c0052t0156 a0001c0004t0068 a0001c0004t0075 a0001c0052t0156	a0001c0004t0068g0062 a0001c0004t0075g0044 a0001c0052t0156g0123 a0001c0004t0068g0062 a0001c0004t0075g0044 a0001c0052t0156g0123	3	339	0.0088	-115	c.181 others(21): Show c.1811-14427_1811-14313del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394638	GGGTGGTC others(108): Show GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19085.hp1 HG03486.hp1 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0098 a0003c0007t0005 a0001c0002t0098 a0003c0007t0005	a0001c0002t0098g0076 a0003c0007t0005g0188 a0001c0002t0098g0076 a0003c0007t0005g0188	2	310	0.0065	-115	c.181 others(21): Show c.1811-14450_1811-14336del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF778_chr16_89212703_89242141	89233052	TCTGCGTA others(108): Show TCTGCGTATGCAACTCAGCTCGCACTGCGTATGCAACTCAGCTCGCACTG CGTATGCAAGTCAGCTCGCTCTGCGTATGCAACTCAGCTCGCTCTGCGTA TGCAACTCAGCTCGCA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0139 a0001c0002t0065g0139	1	432	0.0023	-115	c.45 others(11): Show c.4536_*4650del		ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	7/7				4536	INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF778_chr16_89212703_89242141	89233291	GCAACTCA others(108): Show GCAACTCAGCTCGCTCTGCGTATGCAACTCAGCTCGCTCTGCGTATGCAA CTCAGCTCGCACTGCGTATGCAACTCGCACTGCGTATGCAACTCAACTCG CACTGCGTATGCAACT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 NA18979.hp1 HG00323.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0117 a0001c0001t0077 a0001c0001t0117	a0001c0001t0077g0027 a0001c0001t0117g0086 a0001c0001t0077g0027 a0001c0001t0117g0086	2	401	0.0050	-115	c.47 others(11): Show c.4736_*4850del		ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	7/7				4736	INFO_REALIGN_3_PRIME	chr16	TogoVar
ABR_chr17_998519_1184981	1118339	CCCAGCAT others(107): Show CCCAGCATTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCT GAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTAACCC TGAGCCTGAGTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	336	0.0030	-114	c.246 others(17): Show c.246+6730_246+6843del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22						chr17	TogoVar
ACAN_chr15_88798436_88880353	88855507	TGGGCTTC others(107): Show TGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGG ACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGA GTAGAGGACATCAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp1 HG00544.hp1 HG00609.hp1 others(18): Show HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG01928.hp1 HG01975.hp1 HG01993.hp2 HG02040.hp2 HG02258.hp1 NA18612.hp2 NA18747.hp1 NA18961.hp2 NA18963.hp1 NA18969.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA19065.hp2 NA19088.hp1	a0005 a0082 a0005 a0082	a0005c0006 a0005c0018 a0005c0047 others(5): Show a0005c0006 a0005c0018 a0005c0047 a0005c0091 a0005c0119 a0005c0130 a0005c0131 a0082c0158	a0005c0006t0001 a0005c0018t0001 a0005c0047t0001 others(5): Show a0005c0006t0001 a0005c0018t0001 a0005c0047t0001 a0005c0091t0001 a0005c0119t0001 a0005c0130t0001 a0005c0131t0001 a0082c0158t0001	a0005c0006t0001g0021 a0005c0006t0001g0029 a0005c0006t0001g0127 others(18): Show a0005c0006t0001g0021 a0005c0006t0001g0029 a0005c0006t0001g0127 a0005c0006t0001g0135 a0005c0006t0001g0143 a0005c0006t0001g0179 a0005c0006t0001g0200 a0005c0006t0001g0234 a0005c0006t0001g0332 a0005c0006t0001g0335 a0005c0018t0001g0072 a0005c0018t0001g0126 a0005c0018t0001g0173 a0005c0018t0001g0337 a0005c0047t0001g0052 a0005c0047t0001g0053 a0005c0091t0001g0293 a0005c0119t0001g0099 a0005c0130t0001g0040 a0005c0131t0001g0039 a0082c0158t0001g0038	21	330	0.0636	-114	c.318 others(9): Show c.3181_3294del	p.Thr others(15): Show p.Thr1061_Thr1098del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3562/8960	3181/7707	1061/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(107): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03041.hp1 HG03041.hp1	a0066 a0066	a0066c0055 a0066c0055	a0066c0055t0001 a0066c0055t0001	a0066c0055t0001g0290 a0066c0055t0001g0290	1	142	0.0070	-114	c.357 others(9): Show c.3579_3692del	p.Ala others(15): Show p.Ala1194_Thr1231del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3960/8960	3579/7707	1193/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(107): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCG	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01192.hp2 HG01192.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0140 a0006c0004t0001g0140	1	142	0.0070	-114	c.323 others(9): Show c.3238_3351del	p.Thr others(15): Show p.Thr1080_Thr1117del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3619/8960	3238/7707	1080/2568			chr15	TogoVar
ACAN_chr15_88798436_88880353	88856221	CGCTGCCC others(107): Show CGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGA GAAGTTCTAGAGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00609.hp2 NA18963.hp2 NA18982.hp2 others(2): Show HG00609.hp2 NA18963.hp2 NA18982.hp2 NA19068.hp2 NA19088.hp2	a0004 a0030 a0081 a0004 a0030 a0081	a0004c0027 a0030c0032 a0081c0072 a0004c0027 a0030c0032 a0081c0072	a0004c0027t0001 a0030c0032t0001 a0081c0072t0001 a0004c0027t0001 a0030c0032t0001 a0081c0072t0001	a0004c0027t0001g0032 a0004c0027t0001g0110 a0030c0032t0001g0115 others(2): Show a0004c0027t0001g0032 a0004c0027t0001g0110 a0030c0032t0001g0115 a0030c0032t0001g0212 a0081c0072t0001g0362	5	145	0.0345	-114	c.409 others(9): Show c.4093_4206del	p.Ala others(15): Show p.Ala1365_Thr1402del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4474/8960	4093/7707	1365/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856735	GCTGCCCC others(107): Show GCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02723.hp2 HG02723.hp2	a0062 a0062	a0062c0056 a0062c0056	a0062c0056t0001 a0062c0056t0001	a0062c0056t0001g0245 a0062c0056t0001g0245	1	331	0.0030	-114	c.416 others(9): Show c.4167_4280del	p.Glu others(15): Show p.Glu1389_Val1426del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4548/8960	4167/7707	1389/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAP3_chr1_1287391_1312930	1288592	TGTCTCTG others(107): Show TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	294	0.0034	-114	c.48 others(11): Show c.4858_*4971del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3798		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288699	TCCCCCGA others(107): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGTTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 NA19066.hp1 HG02280.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0002 a0001c0001t0005g0203 a0001c0001t0003g0002 a0001c0001t0005g0203	2	201	0.0100	-114	c.47 others(11): Show c.4751_*4864del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3691		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288979	TCCCGTGT others(107): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGA GTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0006 a0001c0023t0006	a0001c0023t0006g0211 a0001c0023t0006g0211	1	249	0.0040	-114	c.44 others(11): Show c.4471_*4584del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3411		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289006	TCTGCTCC others(107): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTG CTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0208 a0003c0004t0001g0208	1	277	0.0036	-114	c.44 others(11): Show c.4444_*4557del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3384		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289053	TCCCGTGT others(107): Show TCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	273	0.0037	-114	c.43 others(11): Show c.4397_*4510del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3337		chr1	TogoVar

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