Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
B3GNTL1_chr17_82937149_83056770	83023177	C C	CCCCACCT others(40): Show CCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0018 a0001c0006t0001g0018	1	255	0.0039	47	c.298 others(64): Show c.298-8659_298-8658insCCGGGGACAGTGCTAAGCTAACGTGAGT TCACGCTGGTGCAGGTGGG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83023224	G G	GCCCACCT others(40): Show GCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01261.hp1 others(2): Show HG01167.hp2 HG01169.hp1 HG01261.hp1 HG02572.hp2 HG03130.hp1	a0001 a0001	a0001c0013 a0001c0014 a0001c0013 a0001c0014	a0001c0013t0012 a0001c0014t0002 a0001c0013t0012 a0001c0014t0002	a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0013t0012g0015 others(1): Show a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0013t0012g0015 a0001c0014t0002g0012	5	243	0.0206	47	c.298 others(64): Show c.298-8706_298-8705insGCGGGGACAGTGCTAAGCTCATGTGAGT TCACGCTGGTGCAGGTGGG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83023224	G G	GCCCACCT others(40): Show GCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0196 a0002c0010t0007g0196	1	239	0.0042	47	c.298 others(64): Show c.298-8752_298-8706dupGCGGGGACAGTGCTAAGCTAACGTGAGT TCACGCTGGTGCAGGTGGG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83023307	C C	CACTGTCC others(40): Show CACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0074 a0001c0002t0029g0074	1	266	0.0038	47	c.298 others(64): Show c.298-8789_298-8788insCCTAAGCTAACGTGAGTTCACGCTGGTG CAGGTGGGCCGGGGACAGT		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
B4GALNT3_chr12_454939_568509	480433	G G	GGTTCTTG others(40): Show GGTTCTTGAGGTCCCTCTGACCCTGACATTACGGAAGGCTTGACGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 NA18957.hp2 others(1): Show HG00558.hp1 HG00673.hp1 NA18957.hp2 NA18990.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0003 a0004c0005 a0001c0002 a0002c0003 a0004c0005	a0001c0002t0001 a0001c0002t0003 a0002c0003t0012 others(1): Show a0001c0002t0001 a0001c0002t0003 a0002c0003t0012 a0004c0005t0014	a0001c0002t0001g0288 a0001c0002t0003g0291 a0002c0003t0012g0292 others(1): Show a0001c0002t0001g0288 a0001c0002t0003g0291 a0002c0003t0012g0292 a0004c0005t0014g0290	4	224	0.0179	47	c.169 others(66): Show c.169+19888_169+19889insGTTCTTGAGGTCCCTCTGACCCTGAC ATTACGGAAGGCTTGACGGCC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19						chr12	TogoVar
BAG2_chr6_57167326_57194833	57191271	A A	ACTTATCT others(40): Show ACTTATCTTCCAGAAGTTAGCATTTAAGCTAAAATCTCTACCTAGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0012 a0001c0001t0026g0012	1	242	0.0041	47	c.70 others(58): Show c.7081_*7082insCTTATCTTCCAGAAGTTAGCATTTAAGCTAAAAT CTCTACCTAGTAG		BAG2	ENSG00000112208.11	transcript	ENST00000370693.5	protein_coding					1439		chr6	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(40): Show ACACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19090.hp1 HG00280.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0173 a0001c0001t0003g0055 a0001c0001t0001g0173 a0001c0001t0003g0055	2	204	0.0098	47	c.194 others(64): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACACACACACACC		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(40): Show ACACACACACACACACACACACACACACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19074.hp1 NA18952.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0174 a0001c0001t0001g0175	2	204	0.0098	47	c.194 others(64): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACACACACACCCC		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS3_chr17_60672851_61397831	60973584	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	72	0.0139	47	c.122 others(68): Show c.1222-16387_1222-16386insATATATATATATATATATATATAT ATATATATATATATATATATATA		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23						chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045874	T T	TATATAAA others(40): Show TATATAAATATATATTTATATATATTATATATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03041.hp2 HG01891.hp2 HG03041.hp2	a0002 a0002	a0002c0005 a0002c0007 a0002c0005 a0002c0007	a0002c0005t0001 a0002c0007t0001 a0002c0005t0001 a0002c0007t0001	a0002c0005t0001g0018 a0002c0007t0001g0004 a0002c0005t0001g0018 a0002c0007t0001g0004	2	73	0.0274	47	c.202 others(66): Show c.2029+4983_2029+4984insTATAAATATATATTTATATATATTAT ATATATATATTATATATATAA		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61046057	T T	TATATAAT others(40): Show TATATAATATATATATATTTATATATATATATAATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0021 a0003c0001t0001g0021	1	67	0.0149	47	c.202 others(66): Show c.2029+5165_2029+5166insATATAATATATATATATTTATATATA TATATAATATATATATATTTA		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23						chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1275607	G G	GGGTGACT others(40): Show GGGTGACTGAGGGTGTGTGAATGTGTGTGGGGGTGAGTGTGAGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0000 a0001c0005t0002g0000	1	428	0.0023	47	c.43 others(58): Show c.4336_*4337insGGTGACTGAGGGTGTGTGAATGTGTGTGGGGGTG AGTGTGAGTGTGT		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					3793		chr17	TogoVar
BICC1_chr10_58507872_58836435	58621956	G G	GAACAGAA others(40): Show GAACAGAACAACAGAACAGAACAACAGAACAGAACAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00735.hp1 others(22): Show HG00323.hp1 HG00621.hp1 HG00735.hp1 HG01081.hp2 HG01255.hp1 HG01358.hp1 HG01517.hp2 HG01884.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02683.hp2 HG02717.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp2 HG06807.hp1 NA19240.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0002c0002t0004 a0002c0002t0010 a0002c0002t0013 a0002c0002t0035 a0002c0002t0040 a0002c0003t0015 a0002c0003t0042 a0002c0006t0038 a0004c0005t0033	a0001c0001t0001g0094 a0001c0001t0002g0008 a0001c0001t0002g0024 others(22): Show a0001c0001t0001g0094 a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0046 a0001c0001t0002g0064 a0001c0001t0005g0005 a0001c0001t0006g0079 a0001c0001t0006g0099 a0001c0001t0006g0105 a0001c0001t0007g0095 a0001c0001t0007g0122 a0001c0001t0012g0004 a0001c0001t0012g0018 a0002c0002t0004g0027 a0002c0002t0004g0033 a0002c0002t0010g0097 a0002c0002t0013g0127 a0002c0002t0013g0128 a0002c0002t0013g0129 a0002c0002t0035g0016 a0002c0002t0040g0125 a0002c0003t0015g0054 a0002c0003t0042g0114 a0002c0006t0038g0110 a0004c0005t0033g0043	25	65	0.3846	47	c.237 others(64): Show c.237+1057_237+1058insCAGAACAACAGAACAGAACAACAGAACA GAACAACAGAACAGAACAA		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
BMAL1_chr11_13272790_13392266	13288394	T T	TTTTCTTT others(40): Show TTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(21): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp1 HG01934.hp2 HG02027.hp1 HG02129.hp2 HG02148.hp2 HG02258.hp1 HG02293.hp2 HG03195.hp2 HG03834.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 others(21): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0301 a0001c0001t0003g0241 a0001c0002t0001g0237 a0001c0002t0001g0238	24	151	0.1589	47	c.-26 others(68): Show c.-263+10485_-263+10486insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT		BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13288399	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp2 HG02965.hp2 others(2): Show HG02145.hp2 HG02895.hp2 HG02965.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0026 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0214 a0001c0001t0004g0023	5	293	0.0171	47	c.-26 others(68): Show c.-263+10494_-263+10495insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCTTTCTTTCTTTCTTT		BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BPIFB1_chr20_33278214_33314871	33295662	G G	GAGAAAGA others(40): Show GAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0001 a0020c0022t0001	a0020c0022t0001g0265 a0020c0022t0001g0265	1	359	0.0028	47	c.598 others(64): Show c.598-1844_598-1843insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGA		BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32424678	T T	TCCTCCTC others(40): Show TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0047 a0003c0003t0001g0047	1	375	0.0027	47	c.121 others(66): Show c.1218-5275_1218-5274insGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGG		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BPNT2_chr8_56952931_56998867	56956064	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0196 a0001c0001t0035g0196	1	354	0.0028	47	c.77 others(58): Show c.7728_*7729insTATATATATATATATATATATATATATATATATA TATATATATATAT		BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding					1866		chr8	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	67	0.0149	47	c.748 others(64): Show c.748-1912_748-1911insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT		BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11						chr12	TogoVar
BRD1_chr22_49768283_49832873	49802137	G G	GGAGACCA others(40): Show GGAGACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0218	1	240	0.0042	47	c.152 others(66): Show c.1524+2020_1524+2066dupGGCCCCCGCGATGTTGGGGAAAGGAA GAGAGTGGAGGCATTGGTCTC		BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12						chr22	TogoVar
BRD1_chr22_49768283_49832873	49802304	A A	ATTCCCCA others(40): Show ATTCCCCAACATCGCGGGGGCCGAGACCAATGCCTCCACTCTCTTCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 NA18522.hp2 HG02559.hp2 HG02717.hp2 NA18522.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0006 a0003c0007t0006g0011 a0003c0007t0006g0006 a0003c0007t0006g0011	3	249	0.0120	47	c.152 others(66): Show c.1524+1853_1524+1899dupAGGAAGAGAGTGGAGGCATTGGTCTC GGCCCCCGCGATGTTGGGGAA		BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12						chr22	TogoVar
BRSK2_chr11_1384934_1467689	1429523	G G	GCTGTGCC others(40): Show GCTGTGCCCAGCAGTGAGTGTCTTCTGCGGTCTGGTCAGGTTTTGCCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18906.hp1 HG01192.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0044 a0001c0001t0014 a0001c0001t0044	a0001c0001t0014g0042 a0001c0001t0044g0020 a0001c0001t0014g0042 a0001c0001t0044g0020	2	280	0.0071	47	c.92- others(62): Show c.92-6500_92-6499insTGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAG		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1429580	G G	GCAGTGAG others(40): Show GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0010 a0002c0007t0010	a0002c0007t0010g0242 a0002c0007t0010g0243 a0002c0007t0010g0242 a0002c0007t0010g0243	2	358	0.0056	47	c.92- others(62): Show c.92-6414_92-6413insACAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCA		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430279	T T	TGTGCCCA others(40): Show TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03130.hp2 HG02055.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0012 a0001c0001t0001g0013	2	358	0.0056	47	c.92- others(62): Show c.92-5757_92-5756insCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACCGTGC		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430662	T T	TCAGCAGT others(40): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0250 a0001c0001t0063g0250	1	341	0.0029	47	c.92- others(62): Show c.92-5332_92-5331insCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431087	T T	TCAGCAGT others(40): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19088.hp1 HG02129.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0025 a0001c0001t0004 a0001c0001t0025	a0001c0001t0004g0121 a0001c0001t0025g0146 a0001c0001t0004g0121 a0001c0001t0025g0146	2	268	0.0075	47	c.92- others(62): Show c.92-4931_92-4930insTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGG		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431653	C C	CCAGCAGT others(40): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02055.hp1 others(4): Show HG01070.hp1 HG01071.hp2 HG02055.hp1 HG02145.hp2 HG03486.hp2 NA18947.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 a0001c0001t0064 a0002c0002t0008 a0002c0002t0010	a0001c0001t0001g0053 a0001c0001t0003g0235 a0001c0001t0031g0014 others(3): Show a0001c0001t0001g0053 a0001c0001t0003g0235 a0001c0001t0031g0014 a0001c0001t0064g0256 a0002c0002t0008g0164 a0002c0002t0010g0005	7	294	0.0238	47	c.92- others(62): Show c.92-4317_92-4271dupTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGG		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431890	T T	TCAGCAGT others(40): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	297	0.0034	47	c.92- others(62): Show c.92-4128_92-4127insTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGG		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432243	G G	GGGTCTGG others(40): Show GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0196 a0001c0001t0006g0196	1	334	0.0030	47	c.92- others(62): Show c.92-3676_92-3630dupCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432933	A A	AGTGAGCG others(40): Show AGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0051 a0001c0006t0001g0051	1	346	0.0029	47	c.92- others(62): Show c.92-3083_92-3082insGGGTTTTGCCACTGTGCCCAGCGGTGAGCG TCTTCTGCGGTCTGGTC		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432975	T T	TCAGCGGT others(40): Show TCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0204 a0001c0001t0078g0204	1	250	0.0040	47	c.92- others(62): Show c.92-3061_92-3060insGGTGAGCGTCTTCTGCGGTCTGGTCGGGTT TTGCCACTGTGCCCAGC		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BSG_chr19_567596_588493	570682	G G	GGAGGGGG others(40): Show GGAGGGGGCGGAGGGGTGAGTGGGGGAGGGGTGGAGGGGTGGGTGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02970.hp1 HG02451.hp1 HG02559.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0024 a0001c0003t0006 a0001c0001t0001 a0001c0001t0024 a0001c0003t0006	a0001c0001t0001g0098 a0001c0001t0024g0072 a0001c0003t0006g0059 a0001c0001t0001g0098 a0001c0001t0024g0072 a0001c0003t0006g0059	3	130	0.0231	47	c.-19 others(58): Show c.-1953_-1952insGAGGGGGCGGAGGGGTGAGTGGGGGAGGGGTGGA GGGGTGGGTGGAA		BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding					1913		chr19	TogoVar
BSG_chr19_567596_588493	570794	A A	AGGGGTGA others(40): Show AGGGGTGAGTGGGGGGGGGGGCGGAGGGGTGGGTTGGGAGGGGCGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	292	0.0034	47	c.-18 others(58): Show c.-1841_-1840insGGGGTGAGTGGGGGGGGGGGCGGAGGGGTGGGTT GGGAGGGGCGGAG		BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding					1801		chr19	TogoVar
BTRC_chr10_101349165_101562313	101505119	A A	ATATATAT others(40): Show ATATATATACACATATATATATATGTATATGTGTATATATATATGTAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	264	0.0038	47	c.325 others(66): Show c.325-16513_325-16512insACACATATATATATATGTATATGTGT ATATATATATGTATTATATAT		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
BUD13_chr11_116743173_116777987	116763184	G G	GCCCCCCC others(40): Show GCCCCCCCCCCCCCCCCCCCCCCCCCACCCAACCCCCCCCCCCCCCCC	frameshift_variant frameshift_variant	HIGH	NA18966.hp2 NA18966.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0002 a0013c0016t0002	a0013c0016t0002g0135 a0013c0016t0002g0135	1	438	0.0023	47	c.404 others(54): Show c.404_405insGGGGGGGGGGGGGGGGTTGGGTGGGGGGGGGGGGGGGG GGGGGGGGG	p.Pro others(5): Show p.Pro136fs	BUD13	ENSG00000137656.12	transcript	ENST00000260210.5	protein_coding	4/10	427/2192	404/1860	135/619			chr11	TogoVar
C13orf46_chr13_113948705_113979076	113974168	T T	TGCAGGCC others(40): Show TGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02970.hp2 others(3): Show HG02109.hp1 HG02630.hp1 HG02970.hp2 HG03130.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0028 a0001c0001t0014g0081 a0001c0001t0014g0082 others(2): Show a0001c0001t0014g0028 a0001c0001t0014g0081 a0001c0001t0014g0082 a0001c0001t0014g0083 a0001c0001t0014g0084	6	389	0.0154	47	c.-17 others(56): Show c.-172_-171insGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAG CCCCGGCCTGC		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding					93		chr13	TogoVar
C13orf46_chr13_113948705_113979076	113974368	T T	TTGGGGCG others(40): Show TTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	252	0.0040	47	c.-37 others(56): Show c.-372_-371insGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAG AACCCGCCCCA		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding					293		chr13	TogoVar
C16orf95_chr16_87297814_87322392	87304391	A A	ACTGTGCC others(40): Show ACTGTGCCCGGCCTCGCCCATCCTCTAAGGCTGGGATCCAGGTGTGGG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA21309.hp1 NA18968.hp2 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0172 a0002c0001t0001g0018 a0002c0001t0001g0172	2	456	0.0044	47	c.702 others(64): Show c.702-1317_702-1316insCCCACACCTGGATCCCAGCCTTAGAGGA TGGGCGAGGCCGGGCACAG		C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding	6/6						chr16	TogoVar
C17orf78_chr17_37370985_37397708	37390311	T T	TATATATA others(40): Show TATATATATATTTTATATATATATATATTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	439	0.0023	47	c.750 others(62): Show c.750+959_750+960insTTTATATATATATATATTATATATATATAT ATATATAATATATATAT		C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
C18orf63_chr18_74310839_74364189	74361667	A A	AATTATAT others(40): Show AATTATATATAATATAATTATATATTTATATATAATTTATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01071.hp2 others(14): Show HG00099.hp1 HG01069.hp1 HG01071.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01884.hp2 HG01981.hp2 HG03139.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04228.hp2 HG06807.hp1 NA19000.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0069 others(13): Show a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0122 a0001c0001t0002g0134 a0001c0001t0002g0209 a0001c0001t0003g0210 a0001c0001t0008g0149	17	336	0.0506	47	c.52 others(58): Show c.5220_*5221insATTATATATAATATAATTATATATTTATATATAA TTTATAATTATAT		C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding					2479		chr18	TogoVar
C1QTNF9_chr13_24304580_24327531	24309306	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	459	0.0022	47	c.-33 others(56): Show c.-333_-332insATATATATATATATATATATATATATATATATATAT ATATATATATA		C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding					273		chr13	TogoVar
C22orf42_chr22_32144006_32164303	32146169	A A	ATATTATA others(40): Show ATATTATATATTATTATATATTATTATATAATATAACATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02809.hp1 others(3): Show HG01891.hp2 HG02145.hp1 HG02809.hp1 HG03209.hp1 NA19043.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0002 a0002c0007t0002 a0002c0002t0002 a0002c0007t0002	a0002c0002t0002g0018 a0002c0002t0002g0029 a0002c0007t0002g0025 a0002c0002t0002g0018 a0002c0002t0002g0029 a0002c0007t0002g0025	6	377	0.0159	47	c.33 others(58): Show c.3370_*3371insATAATATATATGTTATATTATATAATAATATATA ATAATATATAATA		C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding					2836		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0027 a0002c0010t0002g0027	1	114	0.0088	47	c.16 others(58): Show c.1637_*1638insAAAAAAAAAAAAAAATATATATATATATATATAT ATATATATATATA		C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding					1103		chr22	TogoVar
C3_chr19_6672704_6725650	6689374	T T	TCTGTCTC others(40): Show TCTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0350 a0001c0007t0002g0351 a0001c0007t0002g0350 a0001c0007t0002g0351	2	342	0.0058	47	c.348 others(66): Show c.3489+1254_3489+1255insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGACAG		C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	27/40						chr19	TogoVar
C5AR2_chr19_47327175_47352329	47342382	T T	TTTATTTA others(40): Show TTTATTTATTTATTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0043 a0001c0007t0043	a0001c0007t0043g0222 a0001c0007t0043g0222	1	404	0.0025	47	c.59 others(56): Show c.591_*592insCGGAGTCTCGCTCTGTCGCCCAGGCTTATTTATTTA TTTTTTTGAGA		C5AR2	ENSG00000134830.6	transcript	ENST00000595464.3	protein_coding	2/2				592	INFO_REALIGN_3_PRIME	chr19	TogoVar
C7orf50_chr7_992006_1143247	1016728	G G	GCAGCGCA others(40): Show GCAGCGCACAGCAGCACACAGCAGCGCACGCCAGTGCACAGCAGCACA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0008 a0008c0007t0008	a0008c0007t0008g0161 a0008c0007t0008g0161	1	278	0.0036	47	c.130 others(64): Show c.130-6586_130-6585insTGTGCTGCTGTGCACTGGCGTGCGCTGC TGTGTGCTGCTGTGCGCTG		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1016874	G G	GCACGCCA others(40): Show GCACGCCAGCACACAGCAGCGCACGCCAGCACACAGCAGGACACAGCA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18975.hp1 NA18948.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0002g0213 a0001c0001t0002g0221	2	199	0.0101	47	c.130 others(64): Show c.130-6732_130-6731insTGCTGTGTCCTGCTGTGTGCTGGCGTGC GCTGCTGTGTGCTGGCGTG		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1039547	G G	GGGGTGTC others(40): Show GGGGTGTCGGCCCCCCGCCCGGCCAGCCGTCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0059 a0001c0001t0006g0030 a0001c0001t0006g0059	2	324	0.0062	47	c.130 others(66): Show c.130-29405_130-29404insACCTCCCTCCCGGACGGGACGGCTGG CCGGGCGGGGGGCCGACACCC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1136317	A A	ATATATAT others(40): Show ATATATATAAATATATATAAACATATATAAATATATATAAACATAAAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0320 a0002c0002t0003g0320	1	313	0.0032	47	c.-2+ others(60): Show c.-2+997_-2+998insATTTATGTTTATATATATTTATATATGTTTAT ATATATTTATATATA		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
CA10_chr17_51625320_52163714	51839502	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAGCAAGACTCCTTCTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0083 a0001c0001t0010g0083	1	153	0.0065	47	c.279 others(66): Show c.279+91487_279+91488insGAGAAGGAGTCTTGCTTCCTTTTTTT TTTTTTTTTTTTTTTTTTTTT		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8						chr17	TogoVar

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