Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
TELO2_chr16_1488360_1515454	1507811	GGTGTGTG others(59): Show GGTGTGTGTGTGTGTGTGTGTGATGTGTGTTGGCCCGGGGTGTGTGTGTG TGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18977.hp2 NA19002.hp1 others(2): Show NA18522.hp1 NA18977.hp2 NA19002.hp1 NA19010.hp1 NA19054.hp2	a0004 a0008 a0010 others(1): Show a0004 a0008 a0010 a0013	a0004c0011 a0008c0038 a0010c0051 others(1): Show a0004c0011 a0008c0038 a0010c0051 a0013c0060	a0004c0011t0003 a0008c0038t0004 a0010c0051t0003 others(1): Show a0004c0011t0003 a0008c0038t0004 a0010c0051t0003 a0013c0060t0004	a0004c0011t0003g0204 a0008c0038t0004g0260 a0008c0038t0004g0268 others(2): Show a0004c0011t0003g0204 a0008c0038t0004g0260 a0008c0038t0004g0268 a0010c0051t0003g0120 a0013c0060t0004g0254	5	446	0.0112	-66	c.240 others(83): Show c.2407+113_2407+178delTGTGATGTGTGTTGGCCCGGGGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG		TELO2	ENSG00000100726.15	transcript	ENST00000262319.11	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
TERT_chr5_1248167_1300068	1272541	ACATCAGA others(59): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCTACGA CCGCCATCCACAGTCAC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp2 HG03540.hp2 HG03041.hp1 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0232 a0001c0001t0003g0144 a0001c0001t0003g0197 a0001c0001t0001g0232 a0001c0001t0003g0144 a0001c0001t0003g0197	3	392	0.0077	-66	c.228 others(83): Show c.2287-327_2287-262delGTGACTGTGGATGGCGGTCGTAGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
THBS2_chr6_169210785_169258846	169219512	AAGCAGAT others(59): Show AAGCAGATAAATCAACCCCAACAGGGTTTTGCCCTGTTGGCCAGGCTGGT CTCGAACTCCTGACCTC	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	396	0.0025	-66	c.351 others(83): Show c.3511+620_3511+685delGAGGTCAGGAGTTCGAGACCAGCCTGGC CAACAGGGCAAAACCCTGTTGGGGTTGATTTATCTGCT		THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	21/21						chr6	TogoVar
THSD7B_chr2_136760545_137682718	136890341	TTCTTCTT others(59): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCT CTTCCTCTTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0065 a0017c0027t0001g0065	1	98	0.0102	-66	c.139 others(83): Show c.139+8060_139+8125delCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
TIAM2_chr6_154990315_155262723	155028081	GTGTTACA others(59): Show GTGTTACATATATACTATATATAATATATGTACTGTGTTACATATATACT ATATATAATATATGTAC	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0023 a0007c0013t0001g0023	1	230	0.0044	-66	c.-20 others(87): Show c.-209+32606_-209+32671delTATATAATATATGTACTGTGTTAC ATATATACTATATATAATATATGTACTGTTACATATATACTA		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155028837	ATACTATG others(59): Show ATACTATGTTATATATACACTGTATATACTATCTATACTATGTTATATAT ACACTGTATATACTATC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0223 a0001c0002t0005g0223	1	230	0.0044	-66	c.-20 others(87): Show c.-209+33348_-209+33413delCTATGTTATATATACACTGTATAT ACTATCTATACTATGTTATATATACACTGTATATACTATCTA		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TLCD3A_chr17_727596_747968	727847	GGGGCTCA others(59): Show GGGGCTCAAGTGATCCTCCCGCCTCGGCCTCCTAAAGTGCCGGGATAATA GGCAGGAGCCACCTCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	396	0.0025	-66	c.-48 others(77): Show c.-4800_-4735delGGGCTCAAGTGATCCTCCCGCCTCGGCCTCCTAA AGTGCCGGGATAATAGGCAGGAGCCACCTCCT		TLCD3A	ENSG00000167695.15	transcript	ENST00000308278.13	protein_coding					4748		chr17	TogoVar
TLK2_chr17_62473825_62620481	62533383	TGTGTGTG others(59): Show TGTGTGTGTCTGTGTGTGTGTGTGTAATTTTTTTTTTTTTTGAGACAGGG TCTTGCTGTGTAGCCCA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	292	0.0034	-66	c.364 others(83): Show c.364-2778_364-2713delCTGTGTGTGTGTGTGTAATTTTTTTTTT TTTTGAGACAGGGTCTTGCTGTGTAGCCCAGTGTGTGT		TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr17	TogoVar
TMCO3_chr13_113486021_113555229	113506154	GCGTGGCT others(59): Show GCGTGGCTGCCTGGCCTGTGGAGGAAGGAGCCTGTTACGGGTGGGGAGGG TAAGGGGGCGTGGGCCA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0317 a0002c0004t0005g0317	1	368	0.0027	-66	c.103 others(85): Show c.1038+2603_1038+2668delCGGGTGGGGAGGGTAAGGGGGCGTGG GCCACGTGGCTGCCTGGCCTGTGGAGGAAGGAGCCTGTTA		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113506191	CGGGTGGG others(59): Show CGGGTGGGGAGGGTAAGGGGGCGTGGGCCACGTGGCTGCCTGGCCTGTGG AGGAAGGAGCCTGTTAT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02273.hp2 HG01993.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0099 a0001c0001t0004g0100	2	368	0.0054	-66	c.103 others(85): Show c.1038+2624_1038+2689delCGTGGGCCACGTGGCTGCCTGGCCTG TGGAGGAAGGAGCCTGTTATGGGTGGGGAGGGTAAGGGGG		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM132B_chr12_125181386_125667369	125204500	AGGCTCCG others(59): Show AGGCTCCGTGTACCAGGCACTGTGCTTAGCTCTTTATGTGGAGTATCTCA TGAATCCTTTCAATGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG03195.hp2 others(2): Show HG02109.hp1 HG02630.hp2 HG03195.hp2 HG03453.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0012 a0002c0001 others(2): Show a0001c0003 a0001c0012 a0002c0001 a0002c0005 a0002c0006	a0001c0003t0030 a0001c0012t0048 a0002c0001t0037 others(2): Show a0001c0003t0030 a0001c0012t0048 a0002c0001t0037 a0002c0005t0012 a0002c0006t0007	a0001c0003t0030g0004 a0001c0012t0048g0068 a0002c0001t0037g0093 others(2): Show a0001c0003t0030g0004 a0001c0012t0048g0068 a0002c0001t0037g0093 a0002c0005t0012g0007 a0002c0006t0007g0017	5	128	0.0391	-66	c.67+ others(83): Show c.67+17971_67+18036delGTGTACCAGGCACTGTGCTTAGCTCTTT ATGTGGAGTATCTCATGAATCCTTTCAATGAGGGCTCC		TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM181_chr6_158555091_158640429	158571343	ACCTTGGC others(59): Show ACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGATCTGCCCGCCTTG GCCTTGTGATCTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG01074.hp2 others(8): Show HG00558.hp1 HG00735.hp1 HG01074.hp2 NA18942.hp1 NA18960.hp1 NA18964.hp1 NA18978.hp2 NA18985.hp2 NA19010.hp1 NA19065.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0155 a0001c0001t0002g0157 others(7): Show a0001c0001t0002g0010 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167	11	334	0.0329	-66	c.9-2 others(79): Show c.9-2055_9-1990delGGATTATAGGCGTGATCTGCCCGCCTTGGCCT TGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTG		TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM181_chr6_158555091_158640429	158571365	GGATTATA others(59): Show GGATTATAGGCGTGATCTGCCCGCCTTGGCCTTGTGATCTGCCCGCCTTG GCCTCCCAAAGTGCTGA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02071.hp1 HG02083.hp1 others(33): Show HG02027.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02647.hp1 HG02717.hp2 HG02970.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG04184.hp1 HG04199.hp2 NA18747.hp2 NA18906.hp1 NA18947.hp1 NA18956.hp1 NA18961.hp1 NA18967.hp1 NA18986.hp1 NA18987.hp2 NA19012.hp1 NA19030.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19079.hp2 NA19087.hp1 NA19088.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0029	a0001c0001t0001g0183 a0001c0001t0001g0294 a0001c0001t0001g0300 others(32): Show a0001c0001t0001g0183 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0077 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0312 a0001c0001t0005g0191 a0001c0001t0029g0162	36	334	0.1078	-66	c.9-2 others(79): Show c.9-2049_9-1984delTAGGCGTGATCTGCCCGCCTTGGCCTTGTGAT CTGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTA		TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM185A_chrX_149591556_149636792	149605335	GGCCTCCC others(59): Show GGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCTATAGCCTC CCATGTCACTTTCTATA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0142 a0001c0001t0065g0142	1	259	0.0039	-66	c.424 others(83): Show c.424-1331_424-1266delTATAGAAAGTGACATGGGAGGCTATAGA AAGTGACATGGGAGGCCATAGAAAGTGACATGGGAGGC		TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6						chrX	TogoVar
TMEM70_chr8_73971195_73987783	73976049	AGGCGGCA others(59): Show AGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCGGGCGG CAGGCGGGCGGCAGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	402	0.0025	-66	c.-23 others(75): Show c.-232_-167delGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCGGGC GGCAGGCGGGCGGCAGGCGGGCGGCAGGCG		TMEM70	ENSG00000175606.11	transcript	ENST00000312184.6	protein_coding					145		chr8	TogoVar
TNS3_chr7_47270154_47587111	47371675	CTGGAAAG others(59): Show CTGGAAAGACTGGACTAAACTATAAGGCATGTGCAAATATCACCTCTACA ATTTCAAAAATGGAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG03453.hp2 HG02280.hp2 HG02809.hp1 HG03453.hp2	a0006 a0006	a0006c0035 a0006c0036 a0006c0037 a0006c0035 a0006c0036 a0006c0037	a0006c0035t0002 a0006c0036t0012 a0006c0037t0028 a0006c0035t0002 a0006c0036t0012 a0006c0037t0028	a0006c0035t0002g0005 a0006c0036t0012g0088 a0006c0037t0028g0006 a0006c0035t0002g0005 a0006c0036t0012g0088 a0006c0037t0028g0006	3	196	0.0153	-66	c.102 others(85): Show c.1025-2120_1025-2055delTTTTCCATTTTTGAAATTGTAGAGGT GATATTTGCACATGCCTTATAGTTTAGTCCAGTCTTTCCA		TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	16/30						chr7	TogoVar
TOB1_chr17_50857223_50871354	50866549	CGCCTGCC others(59): Show CGCCTGCCCCTGTCCGGACGCGCGGCGGACGCAGGGGTGGGGAAGCCGCA CCCTCCGGGCTCCAGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	420	0.0024	-66	c.-70 others(75): Show c.-704_-639delTCCTGGAGCCCGGAGGGTGCGGCTTCCCCACCCCTG CGTCCGCCGCGCGTCCGGACAGGGGCAGGC		TOB1	ENSG00000141232.5	transcript	ENST00000499247.3	protein_coding					196		chr17	TogoVar
TONSL_chr8_144423775_144449440	144426510	ACCGCATG others(59): Show ACCGCATGACAGGCCCAGCTCCCCAGCTCCACCATGGCTCCCTGGCGGAG TCACCTGCACAACAGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	406	0.0025	-66	c.25 others(77): Show c.2567_*2632delCACTGTTGTGCAGGTGACTCCGCCAGGGAGCCAT GGTGGAGCTGGGGAGCTGGGCCTGTCATGCGG		TONSL	ENSG00000160949.18	transcript	ENST00000409379.8	protein_coding					2264		chr8	TogoVar
TPO_chr2_1408463_1548673	1443365	GGGGCAGG others(59): Show GGGGCAGGCTCCTTCTTGTTTGTATGATCCAGTCATTGTTGCAGGAGGCA CCGTGTTGGAAGGGAAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02004.hp1 HG02486.hp1 others(11): Show HG00423.hp1 HG02004.hp1 HG02486.hp1 HG03654.hp2 HG04204.hp2 NA18612.hp2 NA18998.hp2 NA19010.hp2 NA19011.hp2 NA19058.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0006 a0001c0001 a0003c0003 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011	a0001c0001t0001g0080 a0001c0001t0003g0128 a0003c0003t0001g0010 others(10): Show a0001c0001t0001g0080 a0001c0001t0003g0128 a0003c0003t0001g0010 a0003c0003t0001g0046 a0003c0003t0004g0016 a0003c0003t0004g0035 a0003c0003t0004g0051 a0003c0003t0005g0001 a0003c0003t0005g0043 a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0100 a0003c0006t0011g0085	14	130	0.1077	-66	c.482 others(83): Show c.482+7031_482+7096delCCGTGTTGGAAGGGAATGGGCAGGCTCC TTCTTGTTTGTATGATCCAGTCATTGTTGCAGGAGGCA		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TPR_chr1_186306652_186380253	186327126	ACATATAT others(59): Show ACATATATATTATATATATAAATATATATAAATATATAACATATATATTA TATATATAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	408	0.0025	-66	c.588 others(83): Show c.5889+268_5889+333delATATATATTTATATATATAATATATATG TTATATATTTATATATATTTATATATATAATATATATG		TPR	ENSG00000047410.14	transcript	ENST00000367478.9	protein_coding	40/50						chr1	TogoVar
TPR_chr1_186306652_186380253	186327136	TATATATA others(59): Show TATATATATAAATATATATAAATATATAACATATATATTATATATATAAA TATATATTATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03041.hp1 NA18906.hp2 HG02257.hp1 HG03041.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0290 a0001c0001t0001g0049 a0001c0001t0001g0290	3	408	0.0074	-66	c.588 others(83): Show c.5889+258_5889+323delTAAATATATAATATATATTTATATATAT AATATATATGTTATATATTTATATATATTTATATATAT		TPR	ENSG00000047410.14	transcript	ENST00000367478.9	protein_coding	40/50						chr1	TogoVar
TPR_chr1_186306652_186380253	186327143	ATAAATAT others(59): Show ATAAATATATATAAATATATAACATATATATTATATATATAAATATATAT TATATATTTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp1 HG02723.hp2 others(3): Show HG02280.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG03516.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0048 a0001c0001t0001g0264 a0001c0001t0001g0270 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0285 a0002c0002t0001g0272	6	408	0.0147	-66	c.588 others(83): Show c.5889+251_5889+316delATATATATAAATATATAATATATATTTA TATATATAATATATATGTTATATATTTATATATATTTA		TPR	ENSG00000047410.14	transcript	ENST00000367478.9	protein_coding	40/50						chr1	TogoVar
TPR_chr1_186306652_186380253	186327162	TAACATAT others(59): Show TAACATATATATTATATATATAAATATATATTATATATTTATATATATAA TATATATAAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	408	0.0025	-66	c.588 others(83): Show c.5889+232_5889+297delTTATATATTTATATATATTATATATATA AATATATAATATATATTTATATATATAATATATATGTT		TPR	ENSG00000047410.14	transcript	ENST00000367478.9	protein_coding	40/50						chr1	TogoVar
TRIB3_chr20_375760_402559	380878	TGATTAGC others(59): Show TGATTAGCTCCGGTTTGCATCACCCGGACCGGGGGATTAGCTCCGGTTTG CATCACCCGGACCGGGG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG02280.hp2 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0016 a0002c0004t0016 a0001c0001t0016 a0002c0004t0016	a0001c0001t0016g0340 a0002c0004t0016g0213 a0001c0001t0016g0340 a0002c0004t0016g0213	2	452	0.0044	-66	c.-25 others(75): Show c.-257_-192delATTAGCTCCGGTTTGCATCACCCGGACCGGGGGATT AGCTCCGGTTTGCATCACCCGGACCGGGGG		TRIB3	ENSG00000101255.12	transcript	ENST00000217233.9	protein_coding	1/4				7033	INFO_REALIGN_3_PRIME	chr20	TogoVar
TRIM2_chr4_153199443_153344317	153244283	CTCCTCCT others(59): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTT CTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0042 a0001c0003t0003g0042	1	268	0.0037	-66	c.31- others(83): Show c.31-26049_31-25984delCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC		TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIP13_chr5_887884_923120	897138	CGGCTTCA others(59): Show CGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTC TAGCAGGCCAAGCCCAG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	402	0.0025	-66	c.388 others(81): Show c.388+488_388+553delGTCAGTGTGTGGGGAAACAGGTGGATTTGG ATGGGCTCTAGCAGGCCAAGCCCAGGGCTTCATTCA		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	897411	TCAGTCAG others(59): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG01109.hp1 others(10): Show HG00609.hp2 HG01106.hp1 HG01109.hp1 HG01433.hp2 HG02280.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp2 NA18990.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0031 a0001c0001t0001g0068 a0001c0001t0001g0069 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0120 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0002g0145 a0001c0001t0002g0186 a0001c0001t0005g0038	13	402	0.0323	-66	c.388 others(81): Show c.388+683_388+748delGCAGTCAGTGTGTGGGGAAACAGGTGGATT TGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCAT		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	897807	TCAGTCAG others(59): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03491.hp1 HG03492.hp1 others(3): Show HG01433.hp2 HG03491.hp1 HG03492.hp1 NA18981.hp2 NA18983.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0051 a0001c0001t0001g0120 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0120 a0001c0001t0001g0176 a0001c0001t0005g0038	6	402	0.0149	-66	c.388 others(83): Show c.388+1079_388+1144delGCAGTCAGTGTGTGGGGAAACAGGTGGA TTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCAT		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	897873	GCAGTCAG others(59): Show GCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02080.hp1 HG03669.hp1 others(18): Show HG00609.hp1 HG02080.hp1 HG03669.hp1 NA18951.hp1 NA18954.hp1 NA18962.hp1 NA18963.hp2 NA18968.hp1 NA18990.hp2 NA18994.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp2 NA19064.hp1 NA19077.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0045 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0192 a0001c0001t0006g0184	21	402	0.0522	-66	c.388 others(83): Show c.388+1145_388+1210delTCAGTCAGTGTGTGGGGAAACAGGTGGA TTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCAT		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	897939	TCAGTCAG others(59): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	402	0.0025	-66	c.388 others(83): Show c.388+1211_388+1276delGCAGTCAGTGTGTGGGGAAACAGGTGGA TTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCAT		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	898797	TCAGTCAG others(59): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG01099.hp2 others(34): Show HG00438.hp1 HG00609.hp1 HG01099.hp2 HG01109.hp1 HG02080.hp1 HG02273.hp2 HG02486.hp1 HG02818.hp2 HG02970.hp1 HG03195.hp2 HG03453.hp2 HG03516.hp1 NA18951.hp1 NA18954.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp1 NA18988.hp2 NA18994.hp2 NA19003.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19077.hp1 NA19085.hp1 NA19086.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0044 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0002g0010 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0006g0184	37	402	0.0920	-66	c.389 others(83): Show c.389-1631_389-1566delGCAGTCAGTGTGTGGGGAAACAGGTGGA TTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCAT		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	898863	GCAGTCAG others(59): Show GCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02280.hp2 HG01106.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0194 a0001c0001t0002g0057 a0001c0001t0001g0194 a0001c0001t0002g0057	2	402	0.0050	-66	c.389 others(83): Show c.389-1565_389-1500delTCAGTCAGTGTGTGGGGAAACAGGTGGA TTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCAT		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	899061	GCAGTCAG others(59): Show GCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01433.hp1 HG02148.hp2 others(2): Show HG01175.hp2 HG01433.hp1 HG02148.hp2 HG03471.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0176 a0001c0001t0002g0056 a0001c0002t0002g0012 a0001c0001t0001g0176 a0001c0001t0002g0056 a0001c0002t0002g0012	5	402	0.0124	-66	c.389 others(83): Show c.389-1367_389-1302delTCAGTCAGTGTGTGGGGAAACAGGTGGA TTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCAT		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	899127	TCAGTCAG others(59): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	402	0.0025	-66	c.389 others(83): Show c.389-1235_389-1170delGCAGTCAGTGTGTGGGGAAACAGGTGGA TTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCAT		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	899259	GCAGTCAG others(59): Show GCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03471.hp1 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0155 a0001c0001t0002g0056 a0001c0001t0002g0155	2	402	0.0050	-66	c.389 others(83): Show c.389-1103_389-1038delTCAGTCAGTGTGTGGGGAAACAGGTGGA TTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCAT		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRPM2_chr21_44348621_44447644	44446110	TCCCAGGT others(59): Show TCCCAGGTGACTGGCTTTTTGTCTAGAGTCACAGACCCGGCCACGCAGGC CTTCAGGTGGCAGCGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02273.hp2 HG02293.hp2 others(1): Show HG02004.hp1 HG02273.hp2 HG02293.hp2 HG03942.hp2	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0007 a0004c0005 a0005c0004 a0003c0007 a0004c0005 a0005c0004	a0003c0007t0003 a0004c0005t0003 a0005c0004t0005 a0003c0007t0003 a0004c0005t0003 a0005c0004t0005	a0003c0007t0003g0001 a0003c0007t0003g0003 a0004c0005t0003g0013 others(1): Show a0003c0007t0003g0001 a0003c0007t0003g0003 a0004c0005t0003g0013 a0005c0004t0005g0038	4	44	0.0909	-66	c.42 others(77): Show c.4294_*4359delCCCAGGTGACTGGCTTTTTGTCTAGAGTCACAGA CCCGGCCACGCAGGCCTTCAGGTGGCAGCGTC		TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding					3467		chr21	TogoVar
TRPM4_chr19_49152792_49216836	49157015	CTCTCTCT others(59): Show CTCTCTCTGGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCT CTGGGTCTCTGTCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0060 a0001c0021t0002g0060	1	312	0.0032	-66	c.-85 others(75): Show c.-851_-786delTCTCTCTGGGTCTCTGTTCCCCTCTCTCTGGGTCTC TGTCCCCCTCTCTCTGGGTCTCTGTCCCCG		TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding					776		chr19	TogoVar
TSPAN9_chr12_3072379_3291559	3226702	GTGTGTAT others(59): Show GTGTGTATGTGTATGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATATAT ATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0099 a0001c0002t0099	a0001c0002t0099g0227 a0001c0002t0099g0227	1	288	0.0035	-66	c.63+ others(83): Show c.63+25448_63+25513delGTGTATGTGTATGTATGTGTGTGTGTGT GTGTGTGTGTGTGTATATATATATATATATATATATAT		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TTC21B_chr2_165868362_165958776	165927259	TATCCTAG others(59): Show TATCCTAGTAGTTATATATATATATATCCTAGTAGTTATATATATATATT ATATATTATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp2 others(74): Show HG00099.hp2 HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG01928.hp1 HG01978.hp2 HG01993.hp2 HG02074.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp1 NA18941.hp1 NA18947.hp1 NA18952.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19078.hp1 NA19078.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19090.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0002c0002 a0002c0014 others(2): Show a0001c0001 a0002c0002 a0002c0014 a0002c0029 a0021c0027	a0001c0001t0019 a0002c0002t0001 a0002c0002t0004 others(8): Show a0001c0001t0019 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0017 a0002c0002t0021 a0002c0014t0004 a0002c0029t0001 a0021c0027t0004	a0001c0001t0019g0237 a0002c0002t0001g0090 a0002c0002t0001g0115 others(74): Show a0001c0001t0019g0237 a0002c0002t0001g0090 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0142 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0367 a0002c0002t0004g0071 a0002c0002t0004g0120 a0002c0002t0004g0124 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0138 a0002c0002t0004g0143 a0002c0002t0004g0145 a0002c0002t0004g0273 a0002c0002t0004g0274 a0002c0002t0004g0275 a0002c0002t0004g0276 a0002c0002t0004g0284 a0002c0002t0004g0363 a0002c0002t0004g0364 a0002c0002t0004g0365 a0002c0002t0004g0366 a0002c0002t0007g0125 a0002c0002t0007g0126 a0002c0002t0007g0127 a0002c0002t0007g0139 a0002c0002t0007g0140 a0002c0002t0007g0141 a0002c0002t0007g0144 a0002c0002t0007g0148 a0002c0002t0009g0395 a0002c0002t0009g0396 a0002c0002t0009g0397 a0002c0002t0009g0399 a0002c0002t0010g0008 a0002c0002t0010g0089 a0002c0002t0010g0091 a0002c0002t0017g0241 a0002c0002t0021g0398 a0002c0014t0004g0113 a0002c0014t0004g0114 a0002c0029t0001g0285 a0021c0027t0004g0267	77	408	0.1887	-66	c.138 others(85): Show c.1386+1810_1386+1875delTATATTATATAATATATAATATATAT ATATAACTACTAGGATATATATATATATAACTACTAGGAT		TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	11/28						chr2	TogoVar
TTLL11_chr9_121810674_122098308	121826491	ATATGTGT others(59): Show ATATGTGTGTGTATATATATATATGTATATATATATATGTGTGTGTGTAT ATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG02258.hp2 others(13): Show HG00639.hp1 HG01891.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02723.hp1 HG02818.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG06807.hp1 NA19030.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0001c0011 a0001c0015 others(3): Show a0001c0001 a0001c0011 a0001c0015 a0003c0002 a0004c0006 a0007c0009	a0001c0001t0004 a0001c0001t0008 a0001c0011t0037 others(5): Show a0001c0001t0004 a0001c0001t0008 a0001c0011t0037 a0001c0015t0018 a0003c0002t0004 a0003c0002t0019 a0004c0006t0018 a0007c0009t0004	a0001c0001t0004g0101 a0001c0001t0004g0110 a0001c0001t0004g0150 others(13): Show a0001c0001t0004g0101 a0001c0001t0004g0110 a0001c0001t0004g0150 a0001c0001t0008g0062 a0001c0001t0008g0064 a0001c0001t0008g0141 a0001c0011t0037g0053 a0001c0015t0018g0151 a0003c0002t0004g0157 a0003c0002t0004g0158 a0003c0002t0004g0162 a0003c0002t0004g0163 a0003c0002t0004g0164 a0003c0002t0019g0168 a0004c0006t0018g0046 a0007c0009t0004g0023	16	174	0.0920	-66	c.184 others(85): Show c.1841-3678_1841-3613delCACACACATATATATATATACACACA CACATATATATATATACATATATATATATACACACACATA		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	8/8						chr9	TogoVar
TTN_chr2_178520989_178812423	178747087	GCTCTAGA others(59): Show GCTCTAGAGTCTCTCCTGGGGGTGTGGAGTATCTCTCCAGAGTCTCTCCT GGGGGTGTGGAATATCT	G G	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0197 a0001c0197	a0001c0197t0001 a0001c0197t0001	a0001c0197t0001g0015 a0001c0197t0001g0015	1	242	0.0041	-66	c.113 others(87): Show c.11312-5232_11312-5167delAGATATTCCACACCCCCAGGAGAG ACTCTGGAGAGATACTCCACACCCCCAGGAGAGACTCTAGAG		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	47/362						chr2	TogoVar
TTN_chr2_178739405_178812423	178747087	GCTCTAGA others(59): Show GCTCTAGAGTCTCTCCTGGGGGTGTGGAGTATCTCTCCAGAGTCTCTCCT GGGGGTGTGGAATATCT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18964.hp2 NA18964.hp2	a0039 a0039	a0039c0085 a0039c0085	a0039c0085t0002 a0039c0085t0002	a0039c0085t0002g0049 a0039c0085t0002g0049	1	370	0.0027	-66	c.152 others(77): Show c.15247_15312delAGATATTCCACACCCCCAGGAGAGACTCTGGAGA GATACTCCACACCCCCAGGAGAGACTCTAGAG	p.Arg others(15): Show p.Arg5083_Glu5104del	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	46/46	15537/18220	15247/16815	5083/5604			chr2	TogoVar
TUBGCP2_chr10_133273635_133313872	133291375	GTGTCCCC others(59): Show GTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGC ACCGTCCGTGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	284	0.0035	-66	c.121 others(85): Show c.1214+1058_1214+1123delTGGGGGACACGGACGGTGCATGCTGC CCTCTCCCGTACAGGTAGGGCTCCCCGGGACACGGGGACA		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291563	GTGTCCCC others(59): Show GTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGC ACCGTCCGTGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18995.hp2 HG02486.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0241 a0001c0002t0003g0046 a0001c0001t0001g0241 a0001c0002t0003g0046	2	284	0.0070	-66	c.121 others(83): Show c.1214+870_1214+935delTGGGGGACACGGACGGTGCATGCTGCCC TCTCCCGTACAGGTAGGGCTCCCCGGGACACGGGGACA		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291670	CCGGGGAG others(59): Show CCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCC CCCATGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	284	0.0035	-66	c.121 others(83): Show c.1214+763_1214+828delACACGGAGGGACATGGGGGACACGGACG GTGCATGCTGCCCTCTCCCGTACAGGTAGGGCTCCCCG		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291751	GTGTCCCC others(59): Show GTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGC GCCCTCCGTGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0001 a0010c0025t0001	a0010c0025t0001g0227 a0010c0025t0001g0227	1	284	0.0035	-66	c.121 others(83): Show c.1214+682_1214+747delTGGGGGACACGGAGGGCGCGTGCTGCCC TCTCCCGTACAGGTAGGGCTCCCCGGGACACGGGGACA		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291833	CCCATGTC others(59): Show CCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18995.hp2 NA19065.hp2 HG03654.hp1 NA18995.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0032 a0001c0002t0003g0046 a0001c0002t0003g0066 a0001c0002t0003g0032 a0001c0002t0003g0046 a0001c0002t0003g0066	3	284	0.0106	-66	c.121 others(83): Show c.1214+600_1214+665delCGGTGCATGCTGCCCTCTCCCGTACAGG TAGGGCTCCCCGGGACACAGGGACACGGAGGGACATGG		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292194	CCTCCGTG others(59): Show CCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGG AGAGGGCAGCATGCACA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	284	0.0035	-66	c.121 others(83): Show c.1214+239_1214+304delTGTGCATGCTGCCCTCTCCCGTACAGGT AGGGCTCCCCGGGACACGGGGACATGGGGGACACGGAG		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292279	CCTCCGTG others(59): Show CCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGG AGAGGGCAGCATGCACA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp2 NA18522.hp1 others(1): Show HG02258.hp2 HG02976.hp2 NA18522.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0189 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0189 a0001c0001t0002g0176	4	284	0.0141	-66	c.121 others(83): Show c.1214+154_1214+219delTGTGCATGCTGCCCTCTCCCGTACAGGT AGGGCTCCCCGGGACACGGGGACATGGGGGACACGGAG		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TWIST2_chr2_238843085_238915534	238862098	TCAGGCCA others(59): Show TCAGGCCAGTGTCTTACAGGTGGCAGTGGTGAACATCCAGTGAGCTGAAG TGGTGTTTACTAATGCA	T T	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	338	0.0030	-66	c.35 others(85): Show c.35+13366_*35+13431delCAGGCCAGTGTCTTACAGGTGGCAGT GGTGAACATCCAGTGAGCTGAAGTGGTGTTTACTAATGCA		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1						chr2	TogoVar

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