Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
TERT_chr5_1248167_1300068	1273451	C C	CACGACTG others(18): Show CACGACTGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	130	0.0077	25	c.228 others(44): Show c.2287-1172_2287-1171insTGTGGTGACTGTGGATGGCAGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273495	G G	GACCGCCA others(18): Show GACCGCCATCCACAGTCACCACATCA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	336	0.0030	25	c.228 others(44): Show c.2287-1216_2287-1215insTGATGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273495	G G	GACTGCCA others(18): Show GACTGCCATCCACAGTCACCACATCA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18999.hp1 NA19054.hp1 NA18955.hp1 NA18999.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0244 a0001c0001t0001g0325 a0001c0001t0001g0326	3	338	0.0089	25	c.228 others(44): Show c.2287-1216_2287-1215insTGATGTGGTGACTGTGGATGGCAGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273640	G G	GACCGCCA others(18): Show GACCGCCATCCACAGTCACCACATCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02523.hp2 HG02602.hp1 others(4): Show HG02056.hp1 HG02523.hp2 HG02602.hp1 HG02735.hp1 HG03540.hp1 HG03834.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0011t0001 a0002c0009t0001	a0001c0001t0001g0118 a0001c0001t0002g0345 a0001c0002t0001g0039 others(4): Show a0001c0001t0001g0118 a0001c0001t0002g0345 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0001g0078 a0001c0011t0001g0098 a0002c0009t0001g0009	7	282	0.0248	25	c.228 others(44): Show c.2287-1361_2287-1360insTGATGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TESK1_chr9_35600262_35615033	35603963	A A	ACTCAGCC others(18): Show ACTCAGCCTCGCTTCCTCGAGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG06807.hp2 HG02257.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	386	0.0052	25	c.-16 others(36): Show c.-1657_-1656insCTCAGCCTCGCTTCCTCGAGGAGCT	TESK1	ENSG00000107140.17	transcript	ENST00000336395.6	protein_coding		1298		chr9	TogoVar
TESK2_chr1_45338883_45496163	45354815	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19240.hp1 HG02055.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0075 a0001c0001t0007g0125 a0001c0001t0002g0075 a0001c0001t0007g0125	2	196	0.0102	25	c.540 others(40): Show c.540+487_540+488insATATATATATATATATATATTTTTT	TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	5/10			chr1	TogoVar
TESK2_chr1_45338883_45496163	45452032	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp1 HG02572.hp2 HG01167.hp2 HG01891.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0002t0004 a0001c0001t0004 a0001c0001t0007 a0001c0002t0004	a0001c0001t0004g0273 a0001c0001t0007g0127 a0001c0002t0004g0272 a0001c0001t0004g0273 a0001c0001t0007g0127 a0001c0002t0004g0272	3	114	0.0263	25	c.222 others(42): Show c.222+5531_222+5532insTTTTTTTTTTTTTTTTTTTTTTTTT	TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	2/10			chr1	TogoVar
TES_chr7_116205539_116263783	116229033	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	280	0.0036	25	c.28- others(40): Show c.28-5500_28-5499insTATATATATATATATATATATATAA	TES	ENSG00000135269.18	transcript	ENST00000358204.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
TET1_chr10_68555337_68699487	68597030	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	84	0.0119	25	c.191 others(44): Show c.1915-3930_1915-3929insTTTTTTTTTTTTTTTTTTTTTTTTT	TET1	ENSG00000138336.9	transcript	ENST00000373644.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
TET2_chr4_105141876_105284803	105276838	T T	TCCCCCCC others(18): Show TCCCCCCCCCCCCCCCCCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0049 a0005c0005t0049	a0005c0005t0049g0047 a0005c0005t0049g0047	1	163	0.0061	25	c.33 others(34): Show c.330_*331insCCCCCCCCCCCCCCCCCCCCCCCCC	TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding	11/11	331	INFO_REALIGN_3_PRIME	chr4	TogoVar
TET2_chr4_105141876_105284803	105278203	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0026 a0001c0001t0077g0026	1	339	0.0029	25	c.16 others(36): Show c.1684_*1685insATATATATATATATATATATATATA	TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding	11/11	1685		chr4	TogoVar
TET3_chr2_73979910_74113176	73992301	T T	TTTTCTTT others(18): Show TTTTCTTTTTTTTTTTCTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01106.hp2 HG01517.hp2 others(6): Show HG00423.hp2 HG01106.hp2 HG01517.hp2 HG02055.hp1 HG02055.hp2 NA18943.hp2 NA18975.hp1 NA19000.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0021 a0001c0002t0001 others(3): Show a0001c0001t0006 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006	a0001c0001t0006g0218 a0001c0001t0006g0230 a0001c0001t0006g0246 others(6): Show a0001c0001t0006g0218 a0001c0001t0006g0230 a0001c0001t0006g0246 a0001c0001t0021g0190 a0001c0002t0001g0134 a0001c0002t0003g0196 a0001c0002t0003g0223 a0001c0002t0004g0129 a0001c0002t0006g0194	9	172	0.0523	25	c.303 others(42): Show c.303+5610_303+5611insCTTTTTTTTCTTTCTTTTTTTTTTT	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TEX11_chrX_70523940_70913711	70539038	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0066 a0004c0005t0001g0066	1	24	0.0417	25	c.252 others(44): Show c.2521-9040_2521-9039insATATATATATATATATATATATATA	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	28/29			chrX	TogoVar
TEX13A_chrX_105213929_105225694	105225561	A A	ATCTACCG others(18): Show ATCTACCGATTCCCAACCCAACCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	298	0.0034	25	c.-50 others(36): Show c.-5000_-4999insATGGGTTGGGTTGGGAATCGGTAGA	TEX13A	ENSG00000268629.8	transcript	ENST00000600991.6	protein_coding		4868		chrX	TogoVar
TEX26_chr13_30927656_30980500	30974131	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	138	0.0072	25	c.809 others(40): Show c.809-714_809-713insATATATATATATATATATATATATA	TEX26	ENSG00000175664.10	transcript	ENST00000380473.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX2_chr17_64142227_64268260	64219508	C C	CAAATAAA others(18): Show CAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0217 a0001c0004t0001g0217	1	72	0.0139	25	c.-25 others(42): Show c.-25-5291_-25-5267dupTATTTTATTTTATTTTATTTTATTT	TEX2	ENSG00000136478.9	transcript	ENST00000584379.6	protein_coding	1/11			chr17	TogoVar
TEX37_chr2_88519649_88534585	88525522	G G	GAGGAGTG others(18): Show GAGGAGTGGGCTAAGAAAGCTGGGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	400	0.0025	25	c.-10 others(39): Show c.-10-110_-10-86dupGAGTGGGCTAAGAAAGCTGGGGCAG	TEX37	ENSG00000172073.4	transcript	ENST00000303254.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
TEX45_chr19_7492548_7513450	7503393	G G	GATACTCA others(18): Show GATACTCAGTCCTGGAAAAAGATGCA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	434	0.0023	25	c.578 others(40): Show c.578-725_578-701dupACTCAGTCCTGGAAAAAGATGCAAT	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
TEX50_chr1_173630338_173642130	173638524	G G	GGAACCAG others(18): Show GGAACCAGGAGTGCTAGAAACCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	25	c.14 others(36): Show c.1488_*1489insGAACCAGGAGTGCTAGAAACCTCCA	TEX50	ENSG00000232113.3	transcript	ENST00000417563.3	protein_coding		1395		chr1	TogoVar
TEX9_chr15_56360426_56435154	56413212	A A	ATTAAATA others(18): Show ATTAAATAATTTAATTTATTTAATAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	377	0.0027	25	c.963 others(40): Show c.963+800_963+824dupACTTAAATAATTTAATTTATTTAAT	TEX9	ENSG00000151575.15	transcript	ENST00000696102.1	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
TFB2M_chr1_246535561_246571261	246543801	A A	ATATAAAT others(18): Show ATATAAATATAAAAATTTTATATTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG02109.hp1 others(5): Show HG00735.hp1 HG01175.hp1 HG02109.hp1 HG02280.hp2 HG02630.hp1 HG03098.hp2 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0069 a0001c0003t0002g0187 others(2): Show a0001c0003t0002g0008 a0001c0003t0002g0069 a0001c0003t0002g0187 a0001c0003t0002g0191 a0001c0003t0002g0192	8	444	0.0180	25	c.101 others(42): Show c.1019+695_1019+719dupAAAATATAAAATTTTTATATTTATA	TFB2M	ENSG00000162851.8	transcript	ENST00000366514.5	protein_coding	7/7			chr1	TogoVar
TFCP2L1_chr2_121211587_121290202	121269918	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp1 HG01243.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0025 a0001c0001t0007g0026	2	120	0.0167	25	c.214 others(44): Show c.214+11201_214+11202insATATATATTTTTTTTTTTTTTTTTT	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	2/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121287677	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00738.hp2 HG02486.hp2 others(10): Show HG00673.hp1 HG00738.hp2 HG02486.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18952.hp1 NA18952.hp2 NA18970.hp1 NA18977.hp1 NA19005.hp1 NA19083.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0003 a0001c0003t0006 a0001c0003t0045	a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0089 others(10): Show a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0013g0086 a0001c0002t0003g0022 a0001c0002t0003g0112 a0001c0002t0003g0167 a0001c0002t0003g0173 a0001c0003t0006g0091 a0001c0003t0045g0106	13	152	0.0855	25	c.-25 others(36): Show c.-2569_-2568insAAAAAAAAAAAAAAAAAAAAAAAAA	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding		2476		chr2	TogoVar
TFDP2_chr3_141939428_142154544	141977107	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0033 a0001c0001t0027g0033	1	209	0.0048	25	c.519 others(42): Show c.519+1412_519+1413insTATATATATATATATATATATATAT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	7/12			chr3	TogoVar
TFEC_chr7_115930152_116035763	115944013	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 NA18978.hp1 others(3): Show HG01175.hp1 HG01243.hp2 NA18978.hp1 NA18999.hp2 NA19003.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0330 a0001c0001t0002g0009 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0330 a0001c0001t0002g0009 a0001c0001t0002g0027 a0001c0001t0002g0205 a0001c0001t0002g0213	6	81	0.0741	25	c.516 others(42): Show c.516-1998_516-1974dupAAAAAAAAAAAAAAAAAAAAAAAAA	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	6/7			chr7	TogoVar
TFF3_chr21_42306667_42320409	42317300	A A	ATCCCTGG others(18): Show ATCCCTGGGGGGATCTGGGTGAGATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0026	25	c.-19 others(36): Show c.-1927_-1926insGATCTCACCCAGATCCCCCCAGGGA	TFF3	ENSG00000160180.17	transcript	ENST00000518498.3	protein_coding		1892		chr21	TogoVar
TFPI_chr2_187459230_187559435	187557900	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02132.hp2 HG02148.hp1 others(7): Show HG02040.hp2 HG02132.hp2 HG02148.hp1 HG02293.hp1 HG03942.hp1 NA18942.hp1 NA18950.hp2 NA18998.hp2 NA19055.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0264 others(7): Show a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0264 a0001c0001t0002g0233 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0263 a0001c0001t0002g0276 a0001c0001t0003g0001 a0001c0001t0003g0122	10	164	0.0610	25	c.-37 others(36): Show c.-3728_-3704dupATTTTATTTTATTTTATTTTATTTT	TFPI	ENSG00000003436.16	transcript	ENST00000233156.9	protein_coding		3466		chr2	TogoVar
TF_chr3_133741393_133801641	133771743	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp2 HG02976.hp1 HG03453.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0013 a0005c0011t0013	a0005c0011t0013g0028 a0005c0011t0013g0028	2	93	0.0215	25	c.168 others(44): Show c.1687+1194_1687+1195insAAAAAAAAAAAAAAAAAAAAAAAAA	TF	ENSG00000091513.16	transcript	ENST00000402696.9	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
TGFBRAP1_chr2_105259414_105334735	105290435	A A	ATGAATTC others(18): Show ATGAATTCTTCAGATATTAGAGAAAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0136 a0002c0002t0002g0136	1	378	0.0026	25	c.103 others(44): Show c.1038+5920_1038+5921insATTTCTCTAATATCTGAAGAATTCA	TGFBRAP1	ENSG00000135966.14	transcript	ENST00000393359.7	protein_coding	4/11			chr2	TogoVar
TGM2_chr20_38122385_38170270	38149678	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG01069.hp1 others(7): Show HG00609.hp1 HG00639.hp2 HG01069.hp1 HG02083.hp2 HG02280.hp2 NA18612.hp1 NA18939.hp2 NA18950.hp2 NA18971.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0018	a0001c0002t0001g0061 a0001c0002t0001g0067 a0001c0002t0002g0039 others(7): Show a0001c0002t0001g0061 a0001c0002t0001g0067 a0001c0002t0002g0039 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0191 a0001c0002t0002g0243 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0018g0065	10	233	0.0429	25	c.552 others(42): Show c.552+1260_552+1261insTTTTTTTTTTTTTTTTTTTTTTTTT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	4/12			chr20	TogoVar
TGS1_chr8_55768446_55831445	55801582	C C	CCTTTTTT others(18): Show CCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0307 a0003c0003t0005g0307	1	112	0.0089	25	c.185 others(42): Show c.1850-875_1850-874insCTTTTTTTTTTTTTTTTTTTTTTTT	TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding	8/12			chr8	TogoVar
THBS2_chr6_169210785_169258846	169218265	A A	ATGGGTGG others(18): Show ATGGGTGGATGGATGGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0253 a0001c0004t0030g0253	1	394	0.0025	25	c.351 others(42): Show c.3512-437_3512-436insCCCACCCACCCCATCCATCCACCCA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	21/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242669	C C	CTCCCACC others(18): Show CTCCCACCTTCCCACCACTCCCACCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	389	0.0026	25	c.695 others(40): Show c.695-712_695-711insAGGTGGGAGTGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169243063	A A	ACTCCCAC others(18): Show ACTCCCACCTTCCCACCTTCCCACCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	1	165	0.0061	25	c.695 others(42): Show c.695-1106_695-1105insCGGTGGGAAGGTGGGAAGGTGGGAG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169243114	C C	CTCCCACC others(18): Show CTCCCACCTTCCCACCACTCCTACCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02559.hp1 others(3): Show HG01891.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02818.hp1 HG02886.hp2	a0001 a0004 a0001 a0004	a0001c0017 a0004c0020 a0004c0029 others(1): Show a0001c0017 a0004c0020 a0004c0029 a0004c0030	a0001c0017t0002 a0004c0020t0001 a0004c0029t0002 others(1): Show a0001c0017t0002 a0004c0020t0001 a0004c0029t0002 a0004c0030t0003	a0001c0017t0002g0040 a0001c0017t0002g0041 a0004c0020t0001g0299 others(3): Show a0001c0017t0002g0040 a0001c0017t0002g0041 a0004c0020t0001g0299 a0004c0020t0001g0301 a0004c0029t0002g0300 a0004c0030t0003g0298	6	394	0.0152	25	c.695 others(42): Show c.695-1157_695-1156insAGGTAGGAGTGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS3_chr1_155190588_155212897	155190864	T T	TCCGGGGG others(18): Show TCCGGGGGCCGAGGTGACACCGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	204	0.0049	25	c.49 others(36): Show c.4976_*4977insCCCACGGTGTCACCTCGGCCCCCGG	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4723		chr1	TogoVar
THBS3_chr1_155190588_155212897	155190865	C C	CCGGGGCC others(18): Show CCGGGGCCGAGGTGACACCGTGGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG02074.hp2 HG02258.hp1 others(3): Show HG01517.hp1 HG02074.hp2 HG02258.hp1 HG02809.hp2 NA18906.hp1 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0002c0002t0001g0024 a0001c0001t0001g0002 a0002c0002t0001g0024	6	292	0.0205	25	c.49 others(36): Show c.4975_*4976insAGCCCACGGTGTCACCTCGGCCCCG	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4722		chr1	TogoVar
THBS4_chr5_80030348_80088287	80080579	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18972.hp2 NA18939.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0060 a0001c0003t0001g0206 a0001c0001t0001g0060 a0001c0003t0001g0206	2	119	0.0168	25	c.268 others(42): Show c.2684+503_2684+527dupTTTTTTTTTTTTTTTTTTTTTTTTT	THBS4	ENSG00000113296.14	transcript	ENST00000350881.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
THBS4_chr5_80030348_80088287	80088261	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	348	0.0029	25	c.51 others(36): Show c.5120_*5121insATATATATATATATATATATATATA	THBS4	ENSG00000113296.14	transcript	ENST00000350881.6	protein_coding		4975		chr5	TogoVar
THEGL_chr4_56525606_56608507	56553675	T T	TGAGCCAA others(18): Show TGAGCCAATTGTTAAAATTGATGAGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03491.hp1 HG03492.hp2 others(1): Show HG00099.hp2 HG03491.hp1 HG03492.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0366 others(1): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0366 a0001c0001t0001g0367	4	382	0.0105	25	c.593 others(42): Show c.593+1061_593+1062insGAGCCAATTGTTAAAATTGATGAGC	THEGL	ENSG00000249693.3	transcript	ENST00000512175.3	protein_coding	3/8			chr4	TogoVar
THEG_chr19_356747_381026	376741	T T	TGTGTGCC others(18): Show TGTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	315	0.0032	25	c.-77 others(34): Show c.-772_-771insGGGGGAGAGGCTGGGTGGGGCACAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		716		chr19	TogoVar
THEG_chr19_356747_381026	376743	T T	TGTGCCCC others(18): Show TGTGCCCCACCCAGCCTCTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0168 a0001c0001t0039g0168	1	334	0.0030	25	c.-77 others(34): Show c.-774_-773insGGGGGGGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		718		chr19	TogoVar
THEG_chr19_356747_381026	376767	T T	TGTGTGCC others(18): Show TGTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	305	0.0033	25	c.-79 others(34): Show c.-798_-797insGGGGGAGAGGCTGGGTGGGGCACAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		742		chr19	TogoVar
THEG_chr19_356747_381026	376773	C C	CCCCACCC others(18): Show CCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	337	0.0030	25	c.-80 others(34): Show c.-804_-803insCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		748		chr19	TogoVar
THEG_chr19_356747_381026	376794	T T	TGTGTGCC others(18): Show TGTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0304 a0002c0002t0003g0304	1	315	0.0032	25	c.-82 others(34): Show c.-825_-824insGGGGGAGAGGCTGGGTGGGGCACAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		769		chr19	TogoVar
THEG_chr19_356747_381026	376796	C C	CGTGCCCC others(18): Show CGTGCCCCACCCAGCCTCTCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 NA20300.hp1 HG01928.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0150 a0001c0001t0001g0154	2	175	0.0114	25	c.-82 others(34): Show c.-827_-826insAGGGGGGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		771		chr19	TogoVar
THEG_chr19_356747_381026	376820	T T	TGTGTGCC others(18): Show TGTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0308 a0002c0002t0001g0308	1	326	0.0031	25	c.-85 others(34): Show c.-851_-850insGGGGGAGAGGCTGGGTGGGGCACAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		795		chr19	TogoVar
THEG_chr19_356747_381026	376879	C C	CCCCACCC others(18): Show CCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0147 a0001c0004t0001g0147	1	325	0.0031	25	c.-91 others(34): Show c.-910_-909insCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		854		chr19	TogoVar
THEG_chr19_356747_381026	377029	T T	TCTGTGCC others(18): Show TCTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	336	0.0030	25	c.-10 others(36): Show c.-1060_-1059insGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1004		chr19	TogoVar
THEG_chr19_356747_381026	377137	C C	CCCCACCC others(18): Show CCCCACCCAGCCTCTCCCCCCCCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0027 a0003c0003t0001g0027	1	317	0.0032	25	c.-11 others(36): Show c.-1168_-1167insCACGGGGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1112		chr19	TogoVar

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