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	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
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(23): Show ATATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18955.hp2 HG04115.hp2 NA18955.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0251 a0001c0003t0003g0275 a0001c0003t0003g0251 a0001c0003t0003g0275	2	233	0.0086	30	c.-94 others(47): Show c.-941-409_-941-408insATATATATGTGTGTGTGTGTGTGTGTGT GT		USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119227256	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19030.hp1 HG03041.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0009 a0001c0001t0010	a0001c0001t0009g0226 a0001c0001t0010g0035 a0001c0001t0009g0226 a0001c0001t0010g0035	2	27	0.0741	30	c.-66 others(49): Show c.-664-8020_-664-7991dupCACACACACACACACACACACACACA CACA		USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119227256	T T	TATACACA others(23): Show TATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0325 a0001c0004t0033g0325	1	26	0.0385	30	c.-66 others(49): Show c.-664-8033_-664-8032insTACACACACACACACACACACACACA CACA		USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
USP6_chr17_5111032_5179991	5115555	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02486.hp2 others(3): Show HG01109.hp2 HG02258.hp2 HG02486.hp2 HG03540.hp2 NA18522.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0003c0003t0001 a0001c0001t0005 a0003c0003t0001	a0001c0001t0005g0005 a0001c0001t0005g0243 a0003c0003t0001g0207 a0001c0001t0005g0005 a0001c0001t0005g0243 a0003c0003t0001g0207	6	17	0.3529	30	c.-31 others(41): Show c.-3113_-3112insACACACACACACACACACACACACACACAC		USP6	ENSG00000129204.17	transcript	ENST00000574788.6	protein_coding					476		chr17	TogoVar
USP8_chr15_50419405_50519421	50431165	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02976.hp2 others(1): Show HG02630.hp1 HG02647.hp1 HG02976.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0072 a0001c0001t0132 a0001c0002t0179 others(1): Show a0001c0001t0072 a0001c0001t0132 a0001c0002t0179 a0001c0002t0185	a0001c0001t0072g0354 a0001c0001t0132g0219 a0001c0002t0179g0373 others(1): Show a0001c0001t0072g0354 a0001c0001t0132g0219 a0001c0002t0179g0373 a0001c0002t0185g0374	4	5	0.8000	30	c.-66 others(47): Show c.-66+6676_-66+6677insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT		USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr15	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(23): Show ACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0162 a0001c0001t0008g0162	1	64	0.0156	30	c.96+ others(45): Show c.96+1961_96+1962insACACACACACACACACTCTCTCTCTCTCTC		USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44					INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(23): Show ACACACACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0137 a0001c0001t0008g0137	1	64	0.0156	30	c.96+ others(45): Show c.96+1961_96+1962insACACACACACACACTCTCTCTCTCTCTCTC		USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44					INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(23): Show ACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18973.hp1 NA19012.hp1 HG03490.hp1 NA18973.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0168 a0001c0001t0001g0207 a0001c0001t0008g0165 a0001c0001t0001g0168 a0001c0001t0001g0207 a0001c0001t0008g0165	3	66	0.0455	30	c.96+ others(45): Show c.96+1961_96+1962insACACACACACACTCTCTCTCTCTCTCTCTC		USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44					INFO_REALIGN_3_PRIME	chrX	TogoVar
UST_chr6_148742030_149081990	148871117	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02615.hp1 HG02109.hp2 HG02145.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0005 a0001c0001t0013 a0002c0005t0019 a0001c0001t0005 a0001c0001t0013 a0002c0005t0019	a0001c0001t0005g0014 a0001c0001t0013g0151 a0002c0005t0019g0103 a0001c0001t0005g0014 a0001c0001t0013g0151 a0002c0005t0019g0103	3	11	0.2727	30	c.248 others(49): Show c.248-15840_248-15839insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC		UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
UTP11_chr1_38007734_38029820	38012048	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02132.hp2 NA18612.hp2 others(1): Show HG00438.hp1 HG02132.hp2 NA18612.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0001g0081 a0001c0001t0005g0003 a0001c0001t0001g0003 a0001c0001t0001g0081 a0001c0001t0005g0003	4	146	0.0274	30	c.-75 others(39): Show c.-755_-754insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding					685		chr1	TogoVar
UTP11_chr1_38007734_38029820	38012051	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA19068.hp2 NA18968.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	366	0.0055	30	c.-75 others(39): Show c.-752_-751insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG		UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding					682		chr1	TogoVar
UTP14A_chrX_129901164_129934752	129922709	A A	ACCCTCCA others(23): Show ACCCTCCACCCCCACCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	271	0.0037	30	c.134 others(49): Show c.1348+1125_1348+1126insTCCACCCCCACCCCCCCCCCCCCCCC CCCC		UTP14A	ENSG00000156697.13	transcript	ENST00000394422.8	protein_coding	11/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
UTP20_chr12_101275105_101391618	101310595	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03831.hp1 HG03831.hp2 others(1): Show HG01074.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0006 a0002c0005t0005g0121 a0002c0005t0005g0122 others(1): Show a0002c0005t0005g0006 a0002c0005t0005g0121 a0002c0005t0005g0122 a0002c0005t0005g0128	4	328	0.0122	30	c.223 others(47): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAGA AA		UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61					INFO_REALIGN_3_PRIME	chr12	TogoVar
UTRN_chr6_144280335_144858034	144732223	T T	TGTGTATA others(23): Show TGTGTATATATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0022 a0001c0039t0022	a0001c0039t0022g0077 a0001c0039t0022g0077	1	124	0.0081	30	c.793 others(49): Show c.7939+1737_7939+1738insGTGTATATATATATGTATATATATAT ATAC		UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	54/74						chr6	TogoVar
UTRN_chr6_144280335_144858034	144824431	C C	CACATTGT others(23): Show CACATTGTATATATATACACTATGTATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG00741.hp1 others(43): Show HG00438.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01981.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03453.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03927.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18945.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18970.hp1 NA18981.hp1 NA19043.hp1 NA19060.hp2 NA19079.hp1 NA19091.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0014 a0017	a0001c0001 a0001c0002 a0001c0006 others(19): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0011 a0001c0013 a0001c0029 a0001c0039 a0001c0045 a0001c0051 a0001c0058 a0002c0007 a0002c0030 a0002c0054 a0003c0012 a0003c0015 a0004c0017 a0004c0019 a0004c0050 a0005c0014 a0014c0021 a0017c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0002t0021 a0001c0006t0009 a0001c0009t0002 a0001c0009t0011 a0001c0011t0014 a0001c0013t0009 a0001c0029t0005 a0001c0039t0022 a0001c0045t0006 a0001c0051t0009 a0001c0058t0011 a0002c0007t0008 a0002c0030t0016 a0002c0054t0002 a0003c0012t0004 a0003c0012t0008 a0003c0015t0001 a0004c0017t0002 a0004c0019t0002 a0004c0050t0011 a0005c0014t0014 a0014c0021t0005 a0017c0038t0013	a0001c0001t0001g0044 a0001c0001t0002g0064 a0001c0001t0005g0102 others(43): Show a0001c0001t0001g0044 a0001c0001t0002g0064 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0114 a0001c0001t0006g0013 a0001c0001t0008g0034 a0001c0001t0008g0045 a0001c0001t0009g0009 a0001c0001t0016g0055 a0001c0001t0017g0046 a0001c0001t0017g0047 a0001c0001t0025g0115 a0001c0002t0001g0033 a0001c0002t0008g0041 a0001c0002t0010g0090 a0001c0002t0010g0091 a0001c0002t0010g0094 a0001c0002t0010g0110 a0001c0002t0021g0050 a0001c0006t0009g0010 a0001c0009t0002g0053 a0001c0009t0011g0078 a0001c0009t0011g0081 a0001c0011t0014g0121 a0001c0011t0014g0122 a0001c0013t0009g0003 a0001c0013t0009g0074 a0001c0029t0005g0109 a0001c0039t0022g0077 a0001c0045t0006g0060 a0001c0051t0009g0005 a0001c0058t0011g0080 a0002c0007t0008g0030 a0002c0030t0016g0016 a0002c0054t0002g0017 a0003c0012t0004g0026 a0003c0012t0008g0036 a0003c0015t0001g0019 a0004c0017t0002g0065 a0004c0019t0002g0057 a0004c0050t0011g0082 a0005c0014t0014g0120 a0014c0021t0005g0118 a0017c0038t0013g0006	46	111	0.4144	30	c.949 others(49): Show c.9495-2916_9495-2915insCATTGTATATATATACACTATGTATA TATA		UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	66/74					INFO_REALIGN_3_PRIME	chr6	TogoVar
VAMP2_chr17_8154149_8167948	8163058	G G	GGCGGGGC others(23): Show GGCGGGGCGCTGCGGGGCGCTGCGGGGCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	407	0.0025	30	c.-18 others(39): Show c.-180_-179insAGCGCCCCGCAGCGCCCCGCAGCGCCCCGC		VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding					111		chr17	TogoVar
VASN_chr16_4366848_4388538	4378328	C C	CGGCCACA others(23): Show CGGCCACAGTGGTGGCCAGGCTGGCCAGGCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02109.hp1 HG01074.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	354	0.0056	30	c.-9- others(45): Show c.-9-2534_-9-2505dupAGTGGTGGCCAGGCTGGCCAGGCTGGCCAC		VASN	ENSG00000168140.5	transcript	ENST00000304735.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
VASP_chr19_45502479_45531983	45513468	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	145	0.0069	30	c.6-4 others(43): Show c.6-4174_6-4173insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		VASP	ENSG00000125753.15	transcript	ENST00000245932.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
VAT1L_chr16_77783564_77985107	77805865	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02486.hp2 NA21309.hp2 HG02040.hp2 HG02486.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0003t0015 a0001c0001t0001 a0001c0003t0005 a0001c0003t0015	a0001c0001t0001g0236 a0001c0003t0005g0113 a0001c0003t0015g0259 a0001c0001t0001g0236 a0001c0003t0005g0113 a0001c0003t0015g0259	3	117	0.0256	30	c.234 others(49): Show c.234-11041_234-11040insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
VAT1L_chr16_77783564_77985107	77895100	C C	CCACACAC others(23): Show CCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp1 HG01891.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0114 a0001c0002t0004g0300 a0001c0002t0004g0114 a0001c0002t0004g0300	2	24	0.0833	30	c.107 others(51): Show c.1077+10315_1077+10316insACACACACACACACACACACACAC ACACAC		VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
VAV1_chr19_6767708_6862361	6794007	A A	ATAAATGA others(23): Show ATAAATGATTTATTTACCAATAAACCAACGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	303	0.0033	30	c.204 others(49): Show c.204+21080_204+21109dupCCAACGGTAAATGATTTATTTACCAA TAAA		VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV2_chr9_133756894_133997324	133856411	C C	CCATGCTG others(23): Show CCATGCTGGTATGTGCCCCCCACCGGGACCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03041.hp2 HG03139.hp1 HG01243.hp2 HG03041.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0028 a0002c0001 a0001c0028 a0002c0001	a0001c0028t0005 a0002c0001t0002 a0001c0028t0005 a0002c0001t0002	a0001c0028t0005g0024 a0002c0001t0002g0101 a0002c0001t0002g0134 a0001c0028t0005g0024 a0002c0001t0002g0101 a0002c0001t0002g0134	3	198	0.0152	30	c.380 others(47): Show c.380+4962_380+4963insAGGTCCCGGTGGGGGGCACATACCAGCA TG		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	3/29						chr9	TogoVar
VAV3_chr1_107566161_107970180	107728600	C C	CGTATACG others(23): Show CGTATACGTATACGTATACGTATACGTATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0148 a0002c0003t0005g0148	1	51	0.0196	30	c.150 others(51): Show c.1502+20367_1502+20368insATATACGTATACGTATACGTATAC GTATAC		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	15/26						chr1	TogoVar
VAV3_chr1_107566161_107970180	107728600	C C	CGTATACG others(23): Show CGTATACGTATACGTATACGTATATGTATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02040.hp2 HG02293.hp1 HG01243.hp2 HG02040.hp2 HG02293.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0006 a0003c0004t0001 a0002c0002t0006 a0003c0004t0001	a0002c0002t0006g0004 a0003c0004t0001g0137 a0003c0004t0001g0180 a0002c0002t0006g0004 a0003c0004t0001g0137 a0003c0004t0001g0180	3	53	0.0566	30	c.150 others(51): Show c.1502+20367_1502+20368insATATACATATACGTATACGTATAC GTATAC		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	15/26						chr1	TogoVar
VAV3_chr1_107566161_107970180	107728600	C C	CGTATACG others(23): Show CGTATACGTATATGTATATGTATATGTATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0005 a0008c0019t0005	a0008c0019t0005g0203 a0008c0019t0005g0203	1	51	0.0196	30	c.150 others(51): Show c.1502+20367_1502+20368insATATACATATACATATACATATAC GTATAC		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	15/26						chr1	TogoVar
VAV3_chr1_107566161_107970180	107728600	C C	CGTATATG others(23): Show CGTATATGTATATGTATATGTATATGTATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02293.hp2 HG03139.hp2 others(3): Show HG01978.hp1 HG02293.hp2 HG03139.hp2 HG03516.hp2 HG04228.hp2 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0002c0003	a0001c0001t0014 a0001c0008t0001 a0002c0002t0011 others(3): Show a0001c0001t0014 a0001c0008t0001 a0002c0002t0011 a0002c0003t0001 a0002c0003t0004 a0002c0003t0008	a0001c0001t0014g0029 a0001c0008t0001g0185 a0002c0002t0011g0024 others(3): Show a0001c0001t0014g0029 a0001c0008t0001g0185 a0002c0002t0011g0024 a0002c0003t0001g0110 a0002c0003t0004g0059 a0002c0003t0008g0172	6	56	0.1071	30	c.150 others(51): Show c.1502+20338_1502+20367dupATATACATATACATATACATATAC ATATAC		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	15/26						chr1	TogoVar
VAV3_chr1_107566161_107970180	107753509	C C	CACACACA others(23): Show CACACACACATATATATACACACATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	197	0.0051	30	c.117 others(49): Show c.1173+1917_1173+1918insATATATATGTGTGTATATATATGTGT GTGT		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	12/26						chr1	TogoVar
VAV3_chr1_107566161_107970180	107753511	C C	CACACACA others(23): Show CACACACATATATACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0081 a0001c0008t0003g0081	1	191	0.0052	30	c.117 others(49): Show c.1173+1915_1173+1916insATATATATATATGTGTGTATATATGT GTGT		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	12/26						chr1	TogoVar
VAV3_chr1_107566161_107970180	107753511	C C	CACACACA others(23): Show CACACACATATATATACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01081.hp1 others(11): Show HG00140.hp1 HG00738.hp1 HG01081.hp1 HG01192.hp1 HG03139.hp2 NA18612.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18964.hp1 NA18979.hp2 NA19004.hp1 NA19084.hp2 NA19091.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0008 a0003c0006 others(1): Show a0001c0001 a0001c0008 a0003c0006 a0004c0005	a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 others(5): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0001t0027 a0001c0008t0001 a0003c0006t0001 a0004c0005t0001 a0004c0005t0004	a0001c0001t0002g0176 a0001c0001t0002g0208 a0001c0001t0008g0196 others(11): Show a0001c0001t0002g0176 a0001c0001t0002g0208 a0001c0001t0008g0196 a0001c0001t0012g0018 a0001c0001t0012g0025 a0001c0001t0012g0026 a0001c0001t0027g0210 a0001c0008t0001g0185 a0003c0006t0001g0128 a0003c0006t0001g0135 a0004c0005t0001g0132 a0004c0005t0001g0171 a0004c0005t0004g0095 a0004c0005t0004g0098	14	204	0.0686	30	c.117 others(49): Show c.1173+1915_1173+1916insATATATATATGTGTGTATATATATGT GTGT		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	12/26						chr1	TogoVar
VAV3_chr1_107566161_107970180	107952468	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18981.hp2 HG01192.hp1 NA18981.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0003 a0004c0005t0004 a0002c0002t0003 a0004c0005t0004	a0002c0002t0003g0101 a0004c0005t0004g0098 a0002c0002t0003g0101 a0004c0005t0004g0098	2	26	0.0769	30	c.204 others(49): Show c.204+12197_204+12198insTATATATATATATATATATATATATA TATA		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	1/26						chr1	TogoVar
VAV3_chr1_107566161_107970180	107952485	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp2 NA18981.hp1 HG02055.hp2 HG02717.hp2 NA18981.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0009 a0002c0002t0006 a0001c0001t0006 a0001c0001t0009 a0002c0002t0006	a0001c0001t0006g0014 a0001c0001t0009g0009 a0002c0002t0006g0001 a0001c0001t0006g0014 a0001c0001t0009g0009 a0002c0002t0006g0001	3	194	0.0155	30	c.204 others(49): Show c.204+12180_204+12181insGTGTATATATATATATATATATATAT ATAT		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	1/26						chr1	TogoVar
VCPIP1_chr8_66623487_66672231	66638970	C C	CTCTCTCT others(23): Show CTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03669.hp1 HG01884.hp2 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0041 a0001c0002t0003 a0001c0003t0041	a0001c0002t0003g0209 a0001c0003t0041g0025 a0001c0002t0003g0209 a0001c0003t0041g0025	2	87	0.0230	30	c.279 others(49): Show c.2798-3599_2798-3598insTATATATATATATATATATATATAGA GAGA		VCPIP1	ENSG00000175073.8	transcript	ENST00000310421.5	protein_coding	2/2						chr8	TogoVar
VCPIP1_chr8_66623487_66672231	66638970	C C	CTCTCTCT others(23): Show CTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0208 a0001c0002t0042g0208	1	86	0.0116	30	c.279 others(49): Show c.2798-3599_2798-3598insTATATATATATATATATATATAGAGA GAGA		VCPIP1	ENSG00000175073.8	transcript	ENST00000310421.5	protein_coding	2/2						chr8	TogoVar
VCPIP1_chr8_66623487_66672231	66638970	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0213 a0001c0002t0008g0213	1	86	0.0116	30	c.279 others(49): Show c.2798-3599_2798-3598insTATATATATATATATATATAGAGAGA GAGA		VCPIP1	ENSG00000175073.8	transcript	ENST00000310421.5	protein_coding	2/2						chr8	TogoVar
VCPIP1_chr8_66623487_66672231	66638970	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0207 a0001c0002t0008g0207	1	86	0.0116	30	c.279 others(49): Show c.2798-3599_2798-3598insTATATATATATATATATAGAGAGAGA GAGA		VCPIP1	ENSG00000175073.8	transcript	ENST00000310421.5	protein_coding	2/2						chr8	TogoVar
VCPIP1_chr8_66623487_66672231	66638970	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0028 a0001c0003t0002g0028	1	86	0.0116	30	c.279 others(49): Show c.2798-3599_2798-3598insTATAGAGAGAGAGAGAGAGAGAGAGA GAGA		VCPIP1	ENSG00000175073.8	transcript	ENST00000310421.5	protein_coding	2/2						chr8	TogoVar
VCX2_chrX_8164944_8176267	8169141	T T	TCCTCCCC others(23): Show TCCTCCCCTCCCTCCCCACACACCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0001 a0011c0027t0001	a0011c0027t0001g0038 a0011c0027t0001g0038	1	91	0.0110	30	c.89 others(39): Show c.890_*891insGAGGAGAGGTGTGTGGGGAGGGAGGGGAGG		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					802		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169327	C C	CCACCTCT others(23): Show CCACCTCTTCCTCCCTCCCTCCCTCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03130.hp1 HG02922.hp2 HG03130.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0014 a0009c0009t0002g0014	2	110	0.0182	30	c.70 others(39): Show c.704_*705insTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					616		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169567	C C	CTCCCTCC others(23): Show CTCCCTCCCTCCCTCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0029 a0002c0001t0008g0029	1	114	0.0088	30	c.46 others(39): Show c.464_*465insAAGAGGTGGTGTGTGGGAGGGAGGGAGGGA		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					376		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169595	T T	TCCTCCCT others(23): Show TCCTCCCTCCCTCCCCACACACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0013 a0006c0007t0006g0013	1	55	0.0182	30	c.43 others(39): Show c.436_*437insGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					348		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169723	C C	CCCTCCCT others(23): Show CCCTCCCTCCCTCCCCACACACCCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0029 a0002c0001t0008g0029	1	96	0.0104	30	c.30 others(39): Show c.308_*309insAAGAGGTGGGTGTGTGGGGAGGGAGGGAGG		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					220		chrX	TogoVar
VCX2_chrX_8164944_8176267	8170097	C C	CGCTCTCC others(23): Show CGCTCTCCTGACTCAGTGGTTCCTCCACCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0013 a0006c0007t0006g0013	1	114	0.0088	30	c.354 others(37): Show c.354_355insCAGGTGGAGGAACCACTGAGTCAGGAGAGC	p.Ser others(43): Show p.Ser118_Glu119insGlnValGluGluProLeuSerGlnGluSer	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding	3/3	661/815	354/420	118/139			chrX	TogoVar
VCX2_chrX_8164944_8176267	8170130	T T	TCTCCTGA others(23): Show TCTCCTGACTCAGTGGTTCCTCCAGCTCGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0013 a0006c0007t0006g0013	1	14	0.0714	30	c.321 others(37): Show c.321_322insGCCGAGCTGGAGGAACCACTGAGTCAGGAG	p.Glu others(43): Show p.Glu107_Ser108insAlaGluLeuGluGluProLeuSerGlnGlu	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding	3/3	628/815	321/420	107/139			chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532940	T T	TCCTCCCT others(23): Show TCCTCCCTCCCTCCCCACACACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0008 a0008c0008t0001g0008	1	62	0.0161	30	c.80 others(39): Show c.804_*805insGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding					677		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533020	C C	CCACCTCT others(23): Show CCACCTCTTCCTCCCTCCCTCCCTCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	72	0.0139	30	c.72 others(39): Show c.724_*725insTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding					597		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533313	T T	TCCTCCCT others(23): Show TCCTCCCTCCCTCCCCACACACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0005 a0009c0014t0005	a0009c0014t0005g0038 a0009c0014t0005g0038	1	58	0.0172	30	c.43 others(39): Show c.431_*432insGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding					304		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533342	T T	TCCTCCCT others(23): Show TCCTCCCTCCCTCCCCACACACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0037 a0001c0001t0013g0037	1	69	0.0145	30	c.40 others(39): Show c.402_*403insGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding					275		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533367	C C	CCACCTCT others(23): Show CCACCTCTTCCTCCCTCCCTCCCTCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03579.hp1 HG02055.hp1 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0003 a0004c0004t0001g0003	2	71	0.0282	30	c.37 others(39): Show c.377_*378insTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding					250		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533768	T T	TCTCGCTC others(23): Show TCTCGCTCTCCTGACTCAGTGGTTCCTCCAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02630.hp2 HG02723.hp2 HG02895.hp1 HG02630.hp2 HG02723.hp2 HG02895.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0006 a0006c0006t0001g0006	3	71	0.0423	30	c.508 others(37): Show c.508_537dupGTGGAGGAACCACTGAGTCAGGAGAGCGAG	p.Glu others(43): Show p.Glu179_Met180insValGluGluProLeuSerGlnGluSerGlu	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding	3/3	844/995	537/561	179/186			chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533771	C C	CGCTCTCC others(23): Show CGCTCTCCTGACTCGGTGGTTCCTCCACCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01074.hp1 HG01074.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0004 a0010c0025t0004	a0010c0025t0004g0027 a0010c0025t0004g0027	1	72	0.0139	30	c.534 others(37): Show c.534_535insCAGGTGGAGGAACCACCGAGTCAGGAGAGC	p.Ser others(43): Show p.Ser178_Glu179insGlnValGluGluProProSerGlnGluSer	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding	3/3	841/995	534/561	178/186			chrX	TogoVar

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