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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAM110B_chr8_57989523_58153784	58047591	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18992.hp2 NA18975.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0002g0239 a0001c0001t0001g0045 a0001c0001t0002g0239	2	300	0.0067	21	c.-41 others(42): Show c.-414+15888_-414+15889insTCTCTCTCTCTCTCTCTCTCT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	2/3			chr8	TogoVar
FAM110B_chr8_57989523_58153784	58075271	T T	TTGGTGTG others(14): Show TTGGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0145 a0001c0001t0010g0145	1	300	0.0033	21	c.-41 others(38): Show c.-413-263_-413-262insGGTGTGTGTGTGTGTGTGTGT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM114A1_chr4_38862806_38950739	38898973	A A	ATGTTATA others(14): Show ATGTTATATATGTAATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02280.hp2 others(9): Show HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp1 HG02723.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp2 NA18906.hp1 NA19030.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0003 others(4): Show a0001c0001 a0001c0004 a0002c0003 a0002c0026 a0002c0032 a0002c0057 a0005c0012	a0001c0001t0007 a0001c0004t0011 a0002c0003t0002 others(6): Show a0001c0001t0007 a0001c0004t0011 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0026t0005 a0002c0032t0044 a0002c0057t0005 a0005c0012t0033	a0001c0001t0007g0256 a0001c0004t0011g0255 a0002c0003t0002g0043 others(9): Show a0001c0001t0007g0256 a0001c0004t0011g0255 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0004g0342 a0002c0003t0005g0042 a0002c0003t0005g0044 a0002c0003t0005g0343 a0002c0026t0005g0039 a0002c0032t0044g0352 a0002c0057t0005g0251 a0005c0012t0033g0341	12	372	0.0323	21	c.437 others(38): Show c.437-6530_437-6529insATTGTTATATATGTAATATAT	FAM114A1	ENSG00000197712.12	transcript	ENST00000358869.5	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM120A_chr9_93446685_93571112	93545780	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19081.hp2 NA18952.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0046 a0001c0001t0015g0105 a0001c0001t0001g0046 a0001c0001t0015g0105	2	318	0.0063	21	c.215 others(40): Show c.2159+2315_2159+2335dupTTTTTTTTTTTTTTTTTTTTT	FAM120A	ENSG00000048828.18	transcript	ENST00000277165.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM120B_chr6_170301758_170412067	170407726	C C	CAGACAAA others(14): Show CAGACAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01074.hp1 HG01106.hp2 others(5): Show HG00280.hp2 HG01074.hp1 HG01106.hp2 HG01255.hp1 HG02145.hp1 HG02818.hp2 HG03669.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 others(5): Show a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0005g0202 a0001c0001t0006g0220 a0001c0002t0001g0021	8	289	0.0277	21	c.29 others(32): Show c.2975_*2976insAGACAAAAAAAAAAAAAAAAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding		660		chr6	TogoVar
FAM124A_chr13_51217398_51289239	51288526	T T	TCTCCTCC others(14): Show TCTCCTCCTCCTCCATCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	406	0.0025	21	c.72 others(32): Show c.7270_*7271insCTCCTCCTCCTCCATCTCCTC	FAM124A	ENSG00000150510.17	transcript	ENST00000322475.13	protein_coding		4288		chr13	TogoVar
FAM124A_chr13_51217398_51289239	51288589	C C	CCTCCTCC others(14): Show CCTCCTCCTCCTCCTCCTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 NA18612.hp2 NA18949.hp1 others(8): Show HG02132.hp1 NA18612.hp2 NA18949.hp1 NA18967.hp2 NA18971.hp2 NA18990.hp2 NA18998.hp1 NA19004.hp2 NA19011.hp1 NA19074.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0026 a0001c0001t0044 a0002c0004t0010	a0001c0001t0001g0036 a0001c0001t0001g0136 a0001c0001t0001g0309 others(8): Show a0001c0001t0001g0036 a0001c0001t0001g0136 a0001c0001t0001g0309 a0001c0001t0002g0025 a0001c0001t0002g0059 a0001c0001t0005g0078 a0001c0001t0005g0080 a0001c0001t0005g0232 a0001c0001t0026g0079 a0001c0001t0044g0140 a0002c0004t0010g0275	11	406	0.0271	21	c.73 others(32): Show c.7333_*7334insCTCCTCCTCCTCCTCCTCCAT	FAM124A	ENSG00000150510.17	transcript	ENST00000322475.13	protein_coding		4351		chr13	TogoVar
FAM135A_chr6_70408508_70566174	70464658	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	268	0.0037	21	c.158 others(40): Show c.158-10744_158-10743insTTTTTTTTTTTTTTTTTTTTT	FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM135A_chr6_70408508_70566174	70565183	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0005 a0012c0018t0005	a0012c0018t0005g0006 a0012c0018t0005g0006	1	268	0.0037	21	c.52 others(32): Show c.5262_*5263insTTTTTTTTTTTTTTTTTTTTT	FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding		4010		chr6	TogoVar
FAM135B_chr8_138125023_138502261	138159278	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02055.hp2 HG03834.hp2 others(4): Show HG01981.hp2 HG02055.hp2 HG03834.hp2 NA18982.hp2 NA18994.hp2 NA19011.hp2 NA19066.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0008 a0003c0001 a0002c0002 a0002c0008 a0003c0001	a0002c0002t0001 a0002c0008t0001 a0003c0001t0004 a0002c0002t0001 a0002c0008t0001 a0003c0001t0004	a0002c0002t0001g0006 a0002c0002t0001g0032 a0002c0002t0001g0039 others(4): Show a0002c0002t0001g0006 a0002c0002t0001g0032 a0002c0002t0001g0039 a0002c0002t0001g0080 a0002c0002t0001g0084 a0002c0008t0001g0087 a0003c0001t0004g0013	7	212	0.0330	21	c.125 others(40): Show c.1259-6063_1259-6062insTTTTTTTTTTTTTTTTTTTTT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	12/19			chr8	TogoVar
FAM13A_chr4_88720960_89062185	88760603	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19043.hp1 NA20129.hp2 HG01123.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0040 a0001c0005t0009 a0001c0005t0040	a0001c0005t0009g0044 a0001c0005t0009g0066 a0001c0005t0040g0164 a0001c0005t0009g0044 a0001c0005t0009g0066 a0001c0005t0040g0164	3	208	0.0144	21	c.157 others(40): Show c.1579-1723_1579-1703dupTTTTTTTTTTTTTTTTTTTTT	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	13/23			chr4	TogoVar
FAM13A_chr4_88720960_89062185	89061609	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0003 a0011 a0003 a0011	a0003c0006 a0011c0018 a0003c0006 a0011c0018	a0003c0006t0016 a0011c0018t0036 a0003c0006t0016 a0011c0018t0036	a0003c0006t0016g0114 a0011c0018t0036g0206 a0003c0006t0016g0114 a0011c0018t0036g0206	2	208	0.0096	21	c.-46 others(32): Show c.-4646_-4645insCAAAAAAAAAAAAAAAAAAAA	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding		4425		chr4	TogoVar
FAM13B_chr5_137932960_138038079	137983213	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	322	0.0031	21	c.117 others(40): Show c.1179+2043_1179+2044insGTTTTTTTTTTTTTTTTTTTT	FAM13B	ENSG00000031003.11	transcript	ENST00000689681.1	protein_coding	10/23			chr5	TogoVar
FAM149A_chr4_186099704_186180337	186104741	C C	CGCGGGCG others(14): Show CGCGGGCGGCGGGCGGCGGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01167.hp2 others(8): Show HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01515.hp2 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0005 a0001c0010 a0002c0004 others(6): Show a0001c0005 a0001c0010 a0002c0004 a0002c0007 a0002c0016 a0002c0026 a0003c0012 a0006c0009 a0006c0045	a0001c0005t0047 a0001c0010t0021 a0002c0004t0023 others(7): Show a0001c0005t0047 a0001c0010t0021 a0002c0004t0023 a0002c0004t0045 a0002c0007t0021 a0002c0016t0046 a0002c0026t0049 a0003c0012t0023 a0006c0009t0044 a0006c0045t0048	a0001c0005t0047g0305 a0001c0010t0021g0240 a0001c0010t0021g0241 others(8): Show a0001c0005t0047g0305 a0001c0010t0021g0240 a0001c0010t0021g0241 a0002c0004t0023g0297 a0002c0004t0045g0309 a0002c0007t0021g0273 a0002c0016t0046g0014 a0002c0026t0049g0009 a0003c0012t0023g0249 a0006c0009t0044g0225 a0006c0045t0048g0008	11	390	0.0282	21	c.-32 others(30): Show c.-328_-308dupGCGGGCGGCGGGCGGCGGGCG	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/14	307	INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM151B_chr5_80483100_80547563	80494456	T T	TTTCTTTC others(14): Show TTTCTTTCTTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19043.hp1 HG02572.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0289 a0001c0001t0002g0288 a0001c0001t0001g0289 a0001c0001t0002g0288	2	356	0.0056	21	c.25+ others(36): Show c.25+6310_25+6311insCTTTCTTTTCTTTTCTTTCTT	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM151B_chr5_80483100_80547563	80525038	G G	GGTGTTTA others(14): Show GGTGTTTAAATACAAAAATAGC	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	356	0.0028	21	c.671 others(38): Show c.671+2901_671+2921dupGTGTTTAAATACAAAAATAGC	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM163A_chr1_179738291_179821198	179783782	T T	TATATAAT others(14): Show TATATAATTTATTATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG03195.hp1 others(5): Show HG02258.hp1 HG02572.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03654.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 others(5): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0026 a0001c0001t0041 a0001c0001t0065 a0001c0002t0043	a0001c0001t0005g0082 a0001c0001t0009g0081 a0001c0001t0010g0162 others(5): Show a0001c0001t0005g0082 a0001c0001t0009g0081 a0001c0001t0010g0162 a0001c0001t0015g0105 a0001c0001t0026g0203 a0001c0001t0041g0197 a0001c0001t0065g0115 a0001c0002t0043g0204	8	226	0.0354	21	c.-13 others(42): Show c.-135-23999_-135-23998insTATAATATAATTTATTATATA	FAM163A	ENSG00000143340.7	transcript	ENST00000341785.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM163A_chr1_179738291_179821198	179795958	C C	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp1 HG02615.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0069 a0001c0001t0006 a0001c0001t0069	a0001c0001t0006g0211 a0001c0001t0069g0125 a0001c0001t0006g0211 a0001c0001t0069g0125	2	226	0.0089	21	c.-13 others(42): Show c.-135-11838_-135-11818dupATTATTATTATTATTATTATT	FAM163A	ENSG00000143340.7	transcript	ENST00000341785.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM163B_chr9_133572081_133614389	133590059	T T	TCCCTTCC others(14): Show TCCCTTCCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0057 a0001c0001t0019g0057	1	382	0.0026	21	c.-23 others(38): Show c.-23-9814_-23-9813insGAAGGGAAGGGAAGGGAAGGG	FAM163B	ENSG00000196990.10	transcript	ENST00000673969.1	protein_coding	1/2			chr9	TogoVar
FAM168A_chr11_73395487_73603112	73445419	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02630.hp2 HG02922.hp1 others(2): Show HG01433.hp2 HG02630.hp2 HG02922.hp1 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0037 a0001c0001t0002 a0001c0001t0037	a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0012 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0037g0177	5	180	0.0278	21	c.71- others(38): Show c.71-14670_71-14650dupAAAAAAAAAAAAAAAAAAAAA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	2/7			chr11	TogoVar
FAM171A1_chr10_15206643_15376289	15369215	T T	TATATATA others(14): Show TATATATATATATATATATTGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	303	0.0033	21	c.97+ others(36): Show c.97+1720_97+1740dupTCAATATATATATATATATAT	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	1/7			chr10	TogoVar
FAM171A2_chr17_44348215_44368853	44368147	T T	TATATATA others(14): Show TATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	21	c.-44 others(32): Show c.-4434_-4433insTATATATATATATATATATAT	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4295		chr17	TogoVar
FAM178B_chr2_96870885_96991580	96930243	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp2 NA19240.hp1 HG02717.hp2 HG02965.hp2 NA19240.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0139 a0001c0012t0001g0140 a0001c0012t0001g0141 a0001c0012t0001g0139 a0001c0012t0001g0140 a0001c0012t0001g0141	3	250	0.0120	21	c.107 others(38): Show c.1079-924_1079-923insATTTTTTTTTTTTTTTTTTTT	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	8/16			chr2	TogoVar
FAM181A_chr14_93922344_93934608	93927060	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	439	0.0023	21	c.-48 others(30): Show c.-482_-481insCACACACACACACACACACAC	FAM181A	ENSG00000140067.7	transcript	ENST00000556222.2	protein_coding		283		chr14	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03195.hp2 HG03225.hp2 others(9): Show HG01192.hp2 HG03195.hp2 HG03225.hp2 NA18943.hp1 NA18949.hp1 NA18990.hp1 NA19005.hp1 NA19012.hp2 NA19056.hp1 NA19058.hp1 NA19082.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0145 others(9): Show a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0263	12	286	0.0420	21	c.291 others(40): Show c.2916-3057_2916-3056insAAAAATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02080.hp1 HG03490.hp2 others(5): Show HG00609.hp2 HG02080.hp1 HG03490.hp2 NA18612.hp1 NA18939.hp1 NA18951.hp2 NA18978.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0151 a0001c0001t0001g0152 others(5): Show a0001c0001t0001g0094 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0180	8	286	0.0280	21	c.291 others(40): Show c.2916-3057_2916-3056insAAAAAAATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	286	0.0035	21	c.291 others(40): Show c.2916-3057_2916-3056insAAAAAAAAATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184B_chr4_17624306_17786621	17641461	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0027 a0001c0005t0027	a0001c0005t0027g0111 a0001c0005t0027g0111	1	238	0.0042	21	c.251 others(38): Show c.2519+574_2519+594dupAAAAAAAAAAAAAAAAAAAAA	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	13/17			chr4	TogoVar
FAM184B_chr4_17624306_17786621	17721383	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01358.hp2 HG02965.hp1 HG01257.hp1 HG01358.hp2 HG02965.hp1	a0001 a0015 a0017 a0001 a0015 a0017	a0001c0003 a0015c0063 a0017c0026 a0001c0003 a0015c0063 a0017c0026	a0001c0003t0008 a0015c0063t0054 a0017c0026t0038 a0001c0003t0008 a0015c0063t0054 a0017c0026t0038	a0001c0003t0008g0205 a0015c0063t0054g0229 a0017c0026t0038g0098 a0001c0003t0008g0205 a0015c0063t0054g0229 a0017c0026t0038g0098	3	238	0.0126	21	c.142 others(40): Show c.142-11760_142-11740dupTTTTTTTTTTTTTTTTTTTTT	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	1/17			chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	330	0.0030	21	c.502 others(38): Show c.502-7999_502-7998insATATATATATATATATATTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0318 a0004c0004t0001g0318	1	330	0.0030	21	c.502 others(38): Show c.502-7999_502-7998insATATATATATATATATTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03834.hp2 HG02818.hp1 HG03834.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0121 a0006c0008t0001g0127 a0006c0008t0001g0121 a0006c0008t0001g0127	2	330	0.0061	21	c.502 others(38): Show c.502-7999_502-7998insATATATATATATATTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03688.hp1 NA18945.hp2 others(8): Show HG01109.hp1 HG03688.hp1 NA18945.hp2 NA18950.hp2 NA18956.hp1 NA18983.hp2 NA18989.hp1 NA19002.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp1	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0001 a0006c0008 a0011c0023 a0001c0001 a0006c0008 a0011c0023	a0001c0001t0001 a0006c0008t0001 a0011c0023t0001 a0001c0001t0001 a0006c0008t0001 a0011c0023t0001	a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0181 others(8): Show a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0220 a0006c0008t0001g0126 a0011c0023t0001g0247	11	330	0.0333	21	c.502 others(38): Show c.502-7999_502-7998insATATATATATATTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03654.hp2 NA18942.hp1 others(4): Show HG00609.hp2 HG03654.hp2 NA18942.hp1 NA18967.hp2 NA18968.hp1 NA18974.hp1 NA19090.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0004 a0006c0008t0001 a0001c0001t0001 a0001c0001t0004 a0006c0008t0001	a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0001g0198 others(4): Show a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0001g0198 a0001c0001t0004g0195 a0001c0001t0004g0208 a0001c0001t0004g0316 a0006c0008t0001g0124	7	330	0.0212	21	c.502 others(38): Show c.502-7999_502-7998insATATATATATTTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	330	0.0030	21	c.502 others(38): Show c.502-7999_502-7998insATATATATTTTTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM20A_chr17_68530116_68606367	68581402	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTTTCTCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0327 a0001c0001t0002g0327	1	380	0.0026	21	c.404 others(40): Show c.404+18840_404+18860dupAGAGAAAAAGAAAGAAAGAAA	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM210A_chr18_13658347_13731558	13663193	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03486.hp2 HG02615.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0056 a0001c0001t0007g0058 a0001c0001t0007g0056 a0001c0001t0007g0058	2	326	0.0061	21	c.32 others(32): Show c.3286_*3287insATATATATATATATATATATA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding		153		chr18	TogoVar
FAM219A_chr9_34393184_34463570	34416212	A A	AAAGAAAG others(14): Show AAAGAAAGAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	396	0.0025	21	c.61- others(38): Show c.61-10249_61-10248insCTTCTTTCTTTCTTCTTTCTT	FAM219A	ENSG00000164970.15	transcript	ENST00000651358.1	protein_coding	1/5			chr9	TogoVar
FAM219A_chr9_34393184_34463570	34430846	T T	TAACAACA others(14): Show TAACAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp1 HG03516.hp2 HG01496.hp1 HG02647.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0018 a0001c0001t0003 a0001c0001t0012 a0001c0001t0018	a0001c0001t0003g0098 a0001c0001t0012g0043 a0001c0001t0018g0099 a0001c0001t0003g0098 a0001c0001t0012g0043 a0001c0001t0018g0099	3	396	0.0076	21	c.61- others(38): Show c.61-24883_61-24882insGTTGTTGTTGTTGTTGTTGTT	FAM219A	ENSG00000164970.15	transcript	ENST00000651358.1	protein_coding	1/5			chr9	TogoVar
FAM222B_chr17_28750980_28847790	28790884	C C	CATTTTTT others(14): Show CATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02630.hp1 HG02738.hp2 others(2): Show HG01358.hp1 HG02630.hp1 HG02738.hp2 HG03017.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0020 a0001c0001t0001g0085 a0001c0001t0001g0094 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0004g0248 a0001c0001t0008g0071	5	276	0.0181	21	c.-40 others(40): Show c.-40-24178_-40-24177insAAAAAAAAAAAAAAAAAAAAT	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18974.hp2 HG03139.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0011 a0002c0002t0004 a0002c0002t0011	a0002c0002t0004g0213 a0002c0002t0011g0199 a0002c0002t0004g0213 a0002c0002t0011g0199	2	328	0.0061	21	c.727 others(36): Show c.727-589_727-588insATATATATATATATATATTTT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16			chr22	TogoVar
FAM227B_chr15_49321970_49625818	49371996	G G	GAAATAAA others(14): Show GAAATAAAATTCACTTATAAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG02040.hp2 others(5): Show HG00558.hp1 HG00642.hp1 HG02040.hp2 HG02135.hp2 HG03704.hp1 HG04184.hp2 NA18747.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0240 others(5): Show a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0253	8	294	0.0272	21	c.101 others(38): Show c.1013-618_1013-598dupATTTATAAGTGAATTTTATTT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49489803	T T	TTATATAT others(14): Show TTATATATATATATATATTTTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01255.hp1 HG04228.hp1 others(1): Show HG00408.hp1 HG01255.hp1 HG04228.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0097 a0001c0001t0001g0178 a0004c0006t0001g0098 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0178 a0004c0006t0001g0098 a0004c0006t0001g0159	4	294	0.0136	21	c.101 others(42): Show c.1012+18387_1012+18407dupTAAAATATATATATATATATA	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49489860	T T	TTATATAT others(14): Show TTATATATATATATATATTTTA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	294	0.0034	21	c.101 others(42): Show c.1012+18350_1012+18351insTAAAATATATATATATATATA	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM228B_chr2_24118469_24174638	24158196	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02717.hp2 HG03486.hp2 others(2): Show HG02071.hp1 HG02717.hp2 HG03486.hp2 NA19074.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0014 a0002c0005t0001g0021 a0002c0005t0001g0023 others(2): Show a0002c0005t0001g0014 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0026 a0002c0005t0001g0035	5	290	0.0172	21	c.687 others(38): Show c.687-3293_687-3292insTTTTTTTTTTTTTTTTTTTTT	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM228B_chr2_24118469_24174638	24166052	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	290	0.0035	21	c.933 others(38): Show c.933-1575_933-1574insTATATATATATATATATATAT	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	9/10			chr2	TogoVar
FAM228B_chr2_24118469_24174638	24166054	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02258.hp1 HG03209.hp1 HG01257.hp1 HG02258.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0193 a0001c0001t0001g0250 a0001c0001t0001g0257	3	290	0.0103	21	c.933 others(38): Show c.933-1572_933-1571insATATATATATATATATATATA	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM228B_chr2_24118469_24174638	24166054	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG06807.hp2 HG02083.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0252 a0001c0001t0001g0224 a0001c0001t0001g0252	2	290	0.0069	21	c.933 others(38): Show c.933-1573_933-1572insTATATATATATATATATATAT	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	9/10			chr2	TogoVar
FAM229B_chr6_112082591_112107790	112104151	A A	AACCGTTT others(14): Show AACCGTTTAAGGCAAACTATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	21	c.33 others(32): Show c.3364_*3365insACCGTTTAAGGCAAACTATGG	FAM229B	ENSG00000203778.8	transcript	ENST00000368656.7	protein_coding		1362		chr6	TogoVar
FAM234A_chr16_229821_271096	236905	A A	AAAAAAAA others(14): Show AAAAAAAAAATAAATAAAAAAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	408	0.0025	21	c.-14 others(40): Show c.-140+2052_-140+2053insAAAAATAAATAAAAAATAAAA	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar

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