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
POLA1_chrX_24688918_25001986	24806053	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	5	0.2000	21	c.296 others(40): Show c.2965-3809_2965-3789dupTTTTTTTTTTTTTTTTTTTTT		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36					INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD1_chr19_50379347_50423014	50396418	C C	CATTGTAT others(14): Show CATTGTATATCTTGTCAAAGAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01891.hp1 others(11): Show HG01109.hp2 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG03041.hp1 HG03209.hp1 HG03486.hp2	a0002 a0003 a0002 a0003	a0002c0015 a0003c0006 a0003c0012 others(1): Show a0002c0015 a0003c0006 a0003c0012 a0003c0033	a0002c0015t0001 a0003c0006t0001 a0003c0012t0001 others(1): Show a0002c0015t0001 a0003c0006t0001 a0003c0012t0001 a0003c0033t0001	a0002c0015t0001g0037 a0002c0015t0001g0038 a0003c0006t0001g0025 others(11): Show a0002c0015t0001g0037 a0002c0015t0001g0038 a0003c0006t0001g0025 a0003c0006t0001g0039 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0006t0001g0042 a0003c0006t0001g0043 a0003c0006t0001g0045 a0003c0006t0001g0046 a0003c0012t0001g0044 a0003c0012t0001g0047 a0003c0012t0001g0048 a0003c0033t0001g0104	14	327	0.0428	21	c.-1- others(36): Show c.-1-2416_-1-2415insAGATATTGTATATCTTGTCAA		POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD1_chr19_50379347_50423014	50396418	C C	CGTTGTAT others(14): Show CGTTGTATATCTTGTCAAAGAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0018 a0003c0032t0001g0018	1	314	0.0032	21	c.-1- others(36): Show c.-1-2433_-1-2432insGTTGTATATCTTGTCAAAGAT		POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26						chr19	TogoVar
POLD3_chr11_74587582_74648076	74609372	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0221 a0001c0001t0006g0221	1	316	0.0032	21	c.220 others(38): Show c.220-2126_220-2125insATATATATATATTTTTTTTTT		POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD3_chr11_74587582_74648076	74609373	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG03195.hp2 others(1): Show HG02055.hp2 HG02258.hp2 HG03195.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0278 a0001c0002t0002g0282 a0001c0002t0002g0283 others(1): Show a0001c0002t0002g0278 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0004g0081	4	354	0.0113	21	c.220 others(38): Show c.220-2126_220-2125insATATATATATATATATATATA		POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11						chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	235	0.0043	21	c.43 others(32): Show c.4361_*4362insATATATATATATATATATTTT		POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding					3138		chr11	TogoVar
POLE2_chr14_49638555_49693214	49682640	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	132	0.0076	21	c.169 others(36): Show c.169+932_169+952dupTTTTTTTTTTTTTTTTTTTTT		POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	2/18						chr14	TogoVar
POLH_chr6_43571185_43625523	43581669	G G	GGCGGTCG others(14): Show GGCGGTCGGGGCGGCGGCGGCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0089 a0002c0002t0005g0089	1	258	0.0039	21	c.-4- others(34): Show c.-4-638_-4-637insGCGGCGGCGGCTGCGGTCGGG		POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
POLH_chr6_43571185_43625523	43585637	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0043 a0001c0001t0026g0043	1	230	0.0043	21	c.273 others(38): Show c.273-1618_273-1617insTTTTTTTTTTTTTTTTTTTTT		POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
POLK_chr5_75506891_75614991	75559505	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0314 a0001c0002t0004g0314	1	345	0.0029	21	c.255 others(38): Show c.255+6921_255+6922insTTTTTTTTTTTTTTTTTTTTT		POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
POLK_chr5_75506891_75614991	75595248	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18906.hp1 HG02647.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0026 a0001c0001t0009 a0001c0001t0026	a0001c0001t0009g0231 a0001c0001t0026g0178 a0001c0001t0009g0231 a0001c0001t0026g0178	2	131	0.0153	21	c.152 others(38): Show c.1529-969_1529-949dupAAAAAAAAAAAAAAAAAAAAA		POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
POLQ_chr3_121426431_121550988	121522284	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18982.hp1 HG02683.hp1 NA18982.hp1	a0003 a0007 a0003 a0007	a0003c0002 a0007c0008 a0003c0002 a0007c0008	a0003c0002t0001 a0007c0008t0001 a0003c0002t0001 a0007c0008t0001	a0003c0002t0001g0159 a0007c0008t0001g0291 a0003c0002t0001g0159 a0007c0008t0001g0291	2	38	0.0526	21	c.110 others(38): Show c.1109-156_1109-136dupAAAAAAAAAAAAAAAAAAAAA		POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29						chr3	TogoVar
POLR1A_chr2_86015216_86110886	86097214	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03579.hp1 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0146 a0001c0012t0002g0152 a0001c0012t0002g0146 a0001c0012t0002g0152	2	70	0.0286	21	c.432 others(38): Show c.432+1376_432+1396dupTTTTTTTTTTTTTTTTTTTTT		POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	3/33						chr2	TogoVar
POLR1G_chr19_45401644_45415737	45410565	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0069 a0003c0003t0069	a0003c0003t0069g0001 a0003c0003t0069g0001	1	113	0.0088	21	c.10 others(32): Show c.1064_*1065insGTGTGTGTGTGTGTGTGTGTG		POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3				1065		chr19	TogoVar
POLR2C_chr16_57457679_57477009	57475693	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	231	0.0043	21	c.45 others(32): Show c.4574_*4575insCTCTCTCTCTCTCTCTCTCTC		POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding					3685		chr16	TogoVar
POLR2D_chr2_127838553_127863155	127844249	G G	GATCTTGC others(14): Show GATCTTGCATTTGCCAGCCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0097 a0001c0002t0097	a0001c0002t0097g0053 a0001c0002t0097g0053	1	356	0.0028	21	c.38 others(32): Show c.3837_*3857dupGGAGGCTGGCAAATGCAAGAT		POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	4/4				3857		chr2	TogoVar
POLR2D_chr2_127838553_127863155	127850440	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0073 a0001c0001t0065g0073	1	119	0.0084	21	c.350 others(36): Show c.350+129_350+149dupTTTTTTTTTTTTTTTTTTTTT		POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	3/3						chr2	TogoVar
POLR2D_chr2_127838553_127863155	127856290	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00735.hp2 others(42): Show HG00621.hp1 HG00642.hp1 HG00735.hp2 HG01106.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01943.hp1 HG01978.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02300.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp2 NA18941.hp1 NA18954.hp1 NA18956.hp1 NA18965.hp1 NA18968.hp1 NA18972.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19091.hp1 NA19091.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0029 a0001c0001t0040 a0001c0001t0044 a0001c0001t0053 a0001c0001t0061 a0001c0001t0071 a0001c0001t0088	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0038 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0004g0222 a0001c0001t0007g0039 a0001c0001t0014g0216 a0001c0001t0019g0215 a0001c0001t0029g0221 a0001c0001t0040g0219 a0001c0001t0044g0226 a0001c0001t0053g0214 a0001c0001t0061g0218 a0001c0001t0071g0220 a0001c0001t0088g0217	45	49	0.9184	21	c.73+ others(36): Show c.73+1737_73+1738insTTTTTTTTTTTTTTTTTTTTT		POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	1/3						chr2	TogoVar
POLR2E_chr19_1081574_1100375	1085529	C C	CTCCATCT others(14): Show CTCCATCTCTCCTGTCTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02258.hp1 HG02809.hp2 others(5): Show HG01978.hp2 HG02258.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0026 a0001c0002t0024 a0001c0002t0026	a0001c0002t0024g0060 a0001c0002t0024g0119 a0001c0002t0024g0217 others(3): Show a0001c0002t0024g0060 a0001c0002t0024g0119 a0001c0002t0024g0217 a0001c0002t0024g0234 a0001c0002t0026g0036 a0001c0002t0026g0216	8	415	0.0193	21	c.32 others(32): Show c.3205_*3206insAGGAGAGACAGGAGAGATGGA		POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding					1044		chr19	TogoVar
POLR2M_chr15_57701714_57722557	57713820	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	42	0.0238	21	c.964 others(36): Show c.964-697_964-677dupTTTTTTTTTTTTTTTTTTTTT		POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
POLR3B_chr12_106352748_106515198	106477891	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0229 a0001c0002t0002g0229	1	5	0.2000	21	c.271 others(42): Show c.2713+14281_2713+14301dupTTTTTTTTTTTTTTTTTTTTT		POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding	23/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp2 HG02896.hp1 others(4): Show HG01167.hp1 HG02109.hp2 HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305	7	248	0.0282	21	c.36+ others(34): Show c.36+653_36+654insTTTTTTTTTTTTTTTTTTTTT		POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
POLR3G_chr5_90469864_90519557	90478569	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0239 a0002c0002t0006g0239	1	101	0.0099	21	c.-44 others(38): Show c.-44+3566_-44+3567insTTTTTTTTTTTTTTTTTTTTT		POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR3H_chr22_41520799_41549470	41544429	A A	ACGCACCG others(14): Show ACGCACCGCGCACCGCGCACCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG02027.hp2 others(2): Show HG00673.hp1 HG01081.hp1 HG02027.hp2 HG02145.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 others(1): Show a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033	a0001c0001t0026g0058 a0001c0001t0026g0060 a0001c0001t0031g0057 others(2): Show a0001c0001t0026g0058 a0001c0001t0026g0060 a0001c0001t0031g0057 a0001c0001t0032g0061 a0001c0001t0033g0059	5	275	0.0182	21	c.-32 others(30): Show c.-329_-328insCGGTGCGCGGTGCGCGGTGCG		POLR3H	ENSG00000100413.17	transcript	ENST00000355209.9	protein_coding	1/6				329		chr22	TogoVar
POLR3H_chr22_41520799_41549470	41544436	A A	ACGCACCA others(14): Show ACGCACCACGCACCGCGCACCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02486.hp2 others(6): Show HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02698.hp1 HG02809.hp2 HG03098.hp2 HG03579.hp1 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0018 a0001c0001t0053 a0001c0001t0017 a0001c0001t0018 a0001c0001t0053	a0001c0001t0017g0041 a0001c0001t0017g0178 a0001c0001t0017g0179 others(3): Show a0001c0001t0017g0041 a0001c0001t0017g0178 a0001c0001t0017g0179 a0001c0001t0018g0021 a0001c0001t0018g0177 a0001c0001t0053g0176	9	82	0.1098	21	c.-33 others(30): Show c.-336_-335insCGGTGCGCGGTGCGTGGTGCG		POLR3H	ENSG00000100413.17	transcript	ENST00000355209.9	protein_coding	1/6				336		chr22	TogoVar
POLR3H_chr22_41520799_41549470	41544436	A A	ACGCACCG others(14): Show ACGCACCGCGCACCGCGCACCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01891.hp1 others(3): Show HG01256.hp1 HG01258.hp1 HG01891.hp1 NA19010.hp1 NA19054.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0027 a0001c0001t0038 a0001c0001t0019 a0001c0001t0027 a0001c0001t0038	a0001c0001t0019g0107 a0001c0001t0019g0108 a0001c0001t0019g0109 others(2): Show a0001c0001t0019g0107 a0001c0001t0019g0108 a0001c0001t0019g0109 a0001c0001t0027g0026 a0001c0001t0038g0106	6	79	0.0759	21	c.-33 others(30): Show c.-336_-335insCGGTGCGCGGTGCGCGGTGCG		POLR3H	ENSG00000100413.17	transcript	ENST00000355209.9	protein_coding	1/6				336		chr22	TogoVar
POLRMT_chr19_612221_638537	616132	C C	CCCCGCCA others(14): Show CCCCGCCAGCCCCCCGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	21	c.11 others(32): Show c.1121_*1141dupCGCGCCCGGGGGGCTGGCGGG		POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding					1088		chr19	TogoVar
POLRMT_chr19_612221_638537	620966	G G	GGGGCGCG others(14): Show GGGGCGCGGGGGCGCCGGGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp1 HG01243.hp2 others(20): Show HG00735.hp2 HG01123.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01515.hp2 HG02109.hp2 HG02145.hp2 HG02486.hp2 HG02572.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03491.hp1 HG03516.hp2 HG03654.hp1 HG03831.hp2 NA18950.hp1 NA18998.hp2 NA19059.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0012 a0037	a0001c0016 a0002c0003 a0002c0007 others(5): Show a0001c0016 a0002c0003 a0002c0007 a0002c0041 a0005c0009 a0008c0011 a0012c0067 a0037c0053	a0001c0016t0001 a0002c0003t0003 a0002c0007t0001 others(6): Show a0001c0016t0001 a0002c0003t0003 a0002c0007t0001 a0002c0007t0002 a0002c0041t0002 a0005c0009t0001 a0008c0011t0002 a0012c0067t0002 a0037c0053t0003	a0001c0016t0001g0017 a0001c0016t0001g0077 a0002c0003t0003g0277 others(19): Show a0001c0016t0001g0017 a0001c0016t0001g0077 a0002c0003t0003g0277 a0002c0003t0003g0278 a0002c0003t0003g0296 a0002c0003t0003g0297 a0002c0003t0003g0301 a0002c0003t0003g0314 a0002c0003t0003g0316 a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0007t0001g0054 a0002c0007t0002g0212 a0002c0007t0002g0214 a0002c0041t0002g0207 a0005c0009t0001g0056 a0005c0009t0001g0073 a0008c0011t0002g0221 a0008c0011t0002g0225 a0012c0067t0002g0219 a0037c0053t0003g0308	23	386	0.0596	21	c.264 others(36): Show c.2640+71_2640+91dupTCCCCCGGCGCCCCCGCGCCC		POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	10/20						chr19	TogoVar
POLRMT_chr19_612221_638537	626696	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0002 a0002c0030t0002	a0002c0030t0002g0191 a0002c0030t0002g0191	1	167	0.0060	21	c.823 others(38): Show c.823-1443_823-1442insTTTTTTTTTTTTTTTTTTTTT		POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	3/20						chr19	TogoVar
POLRMT_chr19_612221_638537	626696	C C	CAAATAAA others(14): Show CAAATAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0010 a0002c0013t0010	a0002c0013t0010g0263 a0002c0013t0010g0263	1	167	0.0060	21	c.823 others(38): Show c.823-1443_823-1442insTTTTTTTTTTTTTTTTTATTT		POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	3/20						chr19	TogoVar
POM121C_chr7_75411786_75491299	75464856	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0036 a0003c0017t0036	a0003c0017t0036g0265 a0003c0017t0036g0265	1	41	0.0244	21	c.-15 others(40): Show c.-152+9827_-152+9847dupTTTTTTTTTTTTTTTTTTTTT		POM121C	ENSG00000272391.6	transcript	ENST00000615331.5	protein_coding	3/14						chr7	TogoVar
POMGNT1_chr1_46183683_46203434	46198533	C C	CGGCGGCG others(14): Show CGGCGGCGGCGGCGGCGGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	397	0.0025	21	c.-24 others(30): Show c.-249_-248insACCGCCGCCGCCGCCGCCGCC		POMGNT1	ENSG00000085998.15	transcript	ENST00000371984.8	protein_coding					100		chr1	TogoVar
POMZP3_chr7_76604986_76632279	76627764	A A	AGTAGCGC others(14): Show AGTAGCGCGTGGTAAGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0244 a0002c0002t0004g0244	1	422	0.0024	21	c.-12 others(32): Show c.-1209_-1208insCACCCCCTTACCACGCGCTAC		POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding					486		chr7	TogoVar
PON1_chr7_95292676_95329532	95302096	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02071.hp1 NA18990.hp1 others(2): Show HG01496.hp2 HG02071.hp1 NA18990.hp1 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0277 others(2): Show a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0277 a0001c0001t0002g0284 a0001c0001t0004g0226	5	155	0.0323	21	c.909 others(35): Show c.909+88_909+108dupTTTTTTTTTTTTTTTTTTTTT		PON1	ENSG00000005421.9	transcript	ENST00000222381.8	protein_coding	8/8						chr7	TogoVar
PON2_chr7_95399862_95440028	95417648	C C	CCACATAC others(14): Show CCACATACACATGTATACACAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	396	0.0025	21	c.146 others(38): Show c.146-1372_146-1352dupCTGTGTATACATGTGTATGTG		PON2	ENSG00000105854.13	transcript	ENST00000222572.8	protein_coding	2/8						chr7	TogoVar
POP4_chr19_29601283_29622237	29614709	G G	GGACAGGC others(14): Show GGACAGGCTGGTCTCAAACTCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0065 a0001c0001t0010g0065	1	460	0.0022	21	c.527 others(36): Show c.527-534_527-514dupGACAGGCTGGTCTCAAACTCC		POP4	ENSG00000105171.10	transcript	ENST00000585603.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
POPDC2_chr3_119637056_119665589	119640962	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG01123.hp1 others(6): Show HG00323.hp1 HG00544.hp1 HG01123.hp1 HG02080.hp1 NA18954.hp2 NA18963.hp2 NA18978.hp2 NA18993.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0027 others(4): Show a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0027 a0002c0002t0002g0051 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065	9	75	0.1200	21	c.16 others(32): Show c.1622_*1642dupTTTTTTTTTTTTTTTTTTTTT		POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding					1093		chr3	TogoVar
POR_chr7_75910155_75991855	75988986	G G	GAGGGGAA others(14): Show GAGGGGAAGGCCGGGTGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	232	0.0043	21	c.25 others(32): Show c.2505_*2506insAGGGGAAGGCCGGGTGGGTGT		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					2132		chr7	TogoVar
POR_chr7_75910155_75991855	75989015	G G	GAGGGGAA others(14): Show GAGGGGAAGGCCGGGTGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	269	0.0037	21	c.25 others(32): Show c.2534_*2535insAGGGGAAGGCCGGGTGGGTGT		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					2161		chr7	TogoVar
POT1_chr7_124817386_124934825	124817689	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00609.hp2 others(19): Show HG00280.hp1 HG00544.hp2 HG00609.hp2 HG01169.hp1 HG02155.hp1 HG02293.hp2 HG02523.hp2 HG02572.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 NA18942.hp2 NA18948.hp2 NA18968.hp1 NA18982.hp1 NA18986.hp1 NA19004.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp1 NA19081.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0005 a0001c0001 a0001c0011 a0002c0005	a0001c0001t0001 a0001c0011t0001 a0002c0005t0001 a0001c0001t0001 a0001c0011t0001 a0002c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0203 a0001c0001t0001g0206 others(18): Show a0001c0001t0001g0013 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0276 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0011t0001g0275 a0002c0005t0001g0250	22	73	0.3014	21	c.62 others(32): Show c.6272_*6273insAAAAAAAAAAAAAAAAAAAAA		POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding					4696		chr7	TogoVar
POTEB3_chr15_21400401_21445499	21413542	A A	ATATATAT others(14): Show ATATATATATATTAAAGAAAAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0019 a0008c0011t0019	a0008c0011t0019g0037 a0008c0011t0019g0037	1	52	0.0192	21	c.141 others(40): Show c.1410-2542_1410-2541insATTTTCTTTAATATATATATA		POTEB3	ENSG00000278522.5	transcript	ENST00000611217.5	protein_coding	9/10						chr15	TogoVar
POTED_chr21_13604777_13650823	13637004	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00099.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0071 a0002c0002t0002g0073	2	387	0.0052	21	c.141 others(40): Show c.1410-2510_1410-2509insATATATATATATATATATATT		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0216 a0001c0001t0007g0216	1	132	0.0076	21	c.47 others(32): Show c.4721_*4722insAAAAAAAAAAAAAAAAAACAC		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					465		chr21	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18948.hp2 NA18963.hp1 others(1): Show HG03491.hp2 NA18948.hp2 NA18963.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0003t0002 a0001c0001t0002 a0001c0001t0006 a0001c0003t0002	a0001c0001t0002g0012 a0001c0001t0006g0273 a0001c0003t0002g0293 a0001c0001t0002g0012 a0001c0001t0006g0273 a0001c0003t0002g0293	4	128	0.0313	21	c.121 others(38): Show c.121-4944_121-4943insAAAAAAATATATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	125	0.0080	21	c.121 others(38): Show c.121-4944_121-4943insAAATATATATATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	116	0.0086	21	c.121 others(38): Show c.121-1340_121-1339insAAATATATATATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01993.hp1 HG01978.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0110 a0001c0001t0002g0021 a0001c0001t0002g0110	2	117	0.0171	21	c.121 others(38): Show c.121-1341_121-1340insTATATATATATATATATATAT		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4						chr11	TogoVar
POU2F1_chr1_167215886_167432340	167358716	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02818.hp1 others(3): Show HG02559.hp1 HG02622.hp1 HG02818.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0278 others(3): Show a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0281 a0001c0001t0005g0282	6	226	0.0265	21	c.128 others(38): Show c.128-6750_128-6730dupTTTTTTTTTTTTTTTTTTTTT		POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
POU4F2_chr4_146633893_146647474	146639305	T T	TGGCGGCG others(14): Show TGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02280.hp2 HG03209.hp1 HG02280.hp2 HG03209.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0002 a0010c0012t0001g0002	2	108	0.0185	21	c.180 others(28): Show c.180_200dupCGGCGGCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly61_Gly67dup	POU4F2	ENSG00000151615.3	transcript	ENST00000281321.3	protein_coding	1/2	449/3144	201/1230	67/409		INFO_REALIGN_3_PRIME	chr4	TogoVar
POU6F2_chr7_38972909_39473601	39005515	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	163	0.0061	21	c.105 others(40): Show c.105+27457_105+27458insGTGTGTGTGTGTGTGTGTGTG		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9						chr7	TogoVar

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