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
PPP3CB_chr10_73431433_73501024	73443286	C C	CAGAAAGA others(13): Show CAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	202	0.0050	20	c.136 others(39): Show c.1366+1419_1366+1438dupTTCTTTCTTTCTTTCTTTCT	PPP3CB	ENSG00000107758.16	transcript	ENST00000360663.10	protein_coding	12/13			chr10	TogoVar
PPP3CB_chr10_73431433_73501024	73443286	C C	CAGACAGA others(13): Show CAGACAGACAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	202	0.0050	20	c.136 others(39): Show c.1366+1438_1366+1439insTTCTTTCTTTCTGTCTGTCT	PPP3CB	ENSG00000107758.16	transcript	ENST00000360663.10	protein_coding	12/13			chr10	TogoVar
PPP3CB_chr10_73431433_73501024	73485950	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0176 a0001c0001t0010g0176	1	202	0.0050	20	c.86- others(35): Show c.86-6434_86-6433insTACACACACACACACACACA	PPP3CB	ENSG00000107758.16	transcript	ENST00000360663.10	protein_coding	1/13			chr10	TogoVar
PPP3CC_chr8_22436078_22546125	22456983	T T	TCCTCCCT others(13): Show TCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	326	0.0031	20	c.49+ others(37): Show c.49+15541_49+15560dupCCCTCCCTCCCTCCCTCCCT	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22472363	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG01257.hp2 others(12): Show HG00408.hp1 HG00621.hp1 HG01257.hp2 HG01261.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02083.hp2 HG02280.hp1 HG02280.hp2 HG03516.hp2 HG03927.hp2 HG04199.hp1 NA18942.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016	a0001c0001t0002g0237 a0001c0001t0002g0261 a0001c0001t0002g0277 others(12): Show a0001c0001t0002g0237 a0001c0001t0002g0261 a0001c0001t0002g0277 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0052 a0001c0001t0005g0041 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0006g0303 a0001c0001t0011g0062 a0001c0001t0011g0068 a0001c0001t0016g0282	15	326	0.0460	20	c.50- others(35): Show c.50-2566_50-2547dupACACACACACACACACACAC	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22496485	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG04199.hp1 others(8): Show HG00438.hp1 HG00597.hp1 HG04199.hp1 HG04228.hp2 NA18945.hp1 NA18959.hp1 NA18987.hp1 NA19001.hp1 NA19009.hp1 NA19011.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0239 a0001c0001t0002g0260 a0001c0001t0002g0290 others(7): Show a0001c0001t0002g0239 a0001c0001t0002g0260 a0001c0001t0002g0290 a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0020 a0001c0001t0005g0073 a0001c0001t0005g0076	11	326	0.0337	20	c.373 others(37): Show c.373-1505_373-1486dupTTTTTTTTTTTTTTTTTTTT	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22515913	C C	CTTTATTT others(13): Show CTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	326	0.0031	20	c.770 others(37): Show c.770+2505_770+2524dupATTTTATTTTATTTTATTTT	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22525491	C C	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG02486.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0004g0217 a0001c0001t0004g0219	2	326	0.0061	20	c.944 others(37): Show c.944-1872_944-1853dupTTCTTTCTTTCTTTCTTTCT	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3R1_chr2_68173857_68257532	68204353	G G	GATATATA others(13): Show GATATATATATATTCTGATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG02622.hp1 others(5): Show HG01167.hp2 HG01243.hp2 HG02622.hp1 HG02970.hp2 HG02976.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 others(2): Show a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0020 a0001c0002t0029	a0001c0002t0008g0284 a0001c0002t0008g0383 a0001c0002t0008g0384 others(5): Show a0001c0002t0008g0284 a0001c0002t0008g0383 a0001c0002t0008g0384 a0001c0002t0009g0010 a0001c0002t0012g0032 a0001c0002t0020g0028 a0001c0002t0020g0030 a0001c0002t0029g0029	8	398	0.0201	20	c.43+ others(37): Show c.43+12738_43+12739insATATCAGAATATATATATAT	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding	2/5			chr2	TogoVar
PPP3R1_chr2_68173857_68257532	68217039	C C	CACACACA others(13): Show CACACACACACACACACGCAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01169.hp1 others(7): Show HG00735.hp1 HG01167.hp1 HG01169.hp1 HG02486.hp1 HG02572.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0012 a0001c0002t0031 a0001c0002t0003 a0001c0002t0012 a0001c0002t0031	a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0037 others(7): Show a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0012g0036 a0001c0002t0012g0040 a0001c0002t0031g0039	10	398	0.0251	20	c.43+ others(31): Show c.43+52_43+53insCTGCGTGTGTGTGTGTGTGT	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding	2/5			chr2	TogoVar
PPP3R1_chr2_68173857_68257532	68229973	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18984.hp2 NA19054.hp2 NA18951.hp1 NA18984.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0048 a0001c0001t0003 a0001c0001t0048	a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0048g0394 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0048g0394	3	398	0.0075	20	c.4-1 others(35): Show c.4-12862_4-12843dupGTGTGTGTGTGTGTGTGTGT	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding	1/5			chr2	TogoVar
PPP4R2_chr3_72991811_73074198	73018407	C C	CGTTATGT others(13): Show CGTTATGTTATGTTATGTTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18948.hp1 NA18951.hp2 others(4): Show HG02451.hp2 NA18948.hp1 NA18951.hp2 NA18982.hp2 NA19011.hp1 NA19084.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0012	a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0344 others(4): Show a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0344 a0001c0001t0002g0317 a0001c0001t0005g0246 a0001c0001t0005g0278 a0001c0003t0012g0210	7	360	0.0194	20	c.116 others(39): Show c.116+20275_116+20294dupGTTATGTTATGTTATGTTAT	PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP4R2_chr3_72991811_73074198	73066239	C C	CATACATA others(13): Show CATACATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01192.hp1 HG00639.hp1 HG01069.hp2 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0061 a0001c0002t0032 a0001c0002t0061	a0001c0002t0032g0044 a0001c0002t0032g0056 a0001c0002t0061g0053 a0001c0002t0032g0044 a0001c0002t0032g0056 a0001c0002t0061g0053	3	360	0.0083	20	c.52 others(29): Show c.520_*521insCATATATATATATATATATA	PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	9/9	521	INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP4R3A_chr14_91452508_91515310	91466940	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04115.hp2 HG03831.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0106 a0001c0001t0009g0053 a0001c0001t0002g0106 a0001c0001t0009g0053	2	370	0.0054	20	c.166 others(39): Show c.1661-1541_1661-1522dupGTGTGTGTGTGTGTGTGTGT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91468667	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG03239.hp2 others(7): Show HG00609.hp1 HG00741.hp2 HG03239.hp2 NA18942.hp2 NA18947.hp1 NA18977.hp2 NA19054.hp2 NA19058.hp2 NA19074.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0232 others(7): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0252 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0303 a0001c0001t0001g0349	10	370	0.0270	20	c.166 others(39): Show c.1660+2150_1660+2169dupTTTTTTTTTTTTTTTTTTTT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91472824	A A	ACAACCAA others(13): Show ACAACCAACCAACCAACCAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03669.hp2 NA18982.hp2 HG02055.hp2 HG03669.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0290 a0001c0001t0001g0344 a0001c0002t0001g0201 a0001c0001t0001g0290 a0001c0001t0001g0344 a0001c0002t0001g0201	3	370	0.0081	20	c.150 others(37): Show c.1501+189_1501+208dupGTTGGTTGGTTGGTTGGTTG	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	9/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91495302	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(35): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01175.hp2 HG01256.hp1 HG01496.hp1 HG01934.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02622.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18963.hp1 NA18965.hp1 NA18973.hp1 NA19001.hp1 NA19009.hp1 NA19012.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0003c0009t0002	a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 others(35): Show a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0144 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0304 a0001c0001t0002g0329 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0003g0099 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0006g0363 a0001c0001t0006g0364 a0001c0001t0006g0365 a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0009g0053 a0003c0009t0002g0355	38	370	0.1027	20	c.143 others(37): Show c.143-4520_143-4501dupCACACACACACACACACACA	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
PPP5C_chr19_46342087_46395975	46389460	C C	CACACACA others(13): Show CACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18956.hp1 NA18946.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0066 a0001c0002t0002g0032 a0001c0002t0002g0066	2	394	0.0051	20	c.135 others(37): Show c.1356-590_1356-589insCACACACACACACACACAGA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6C_chr9_125141573_125194803	125167379	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0367 a0001c0001t0004g0367	1	394	0.0025	20	c.171 others(37): Show c.171+3686_171+3705dupTTTTTTTTTTTTTTTTTTTT	PPP6C	ENSG00000119414.12	transcript	ENST00000373547.9	protein_coding	2/6			chr9	TogoVar
PPP6C_chr9_125141573_125194803	125171478	C C	CACACATA others(13): Show CACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	394	0.0025	20	c.76- others(33): Show c.76-299_76-298insATATATATATATATATGTGT	PPP6C	ENSG00000119414.12	transcript	ENST00000373547.9	protein_coding	1/6			chr9	TogoVar
PPP6R1_chr19_55224779_55264017	55243404	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0090 a0012c0020t0001g0090	1	378	0.0027	20	c.619 others(35): Show c.619-917_619-916insTTTTTTTTTTTTTTTTTTTT	PPP6R1	ENSG00000105063.19	transcript	ENST00000412770.7	protein_coding	5/23			chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50375832	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp2 HG02895.hp2 others(1): Show HG02486.hp2 HG02717.hp2 HG02895.hp2 HG02965.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0011 a0001c0002 a0005c0011	a0001c0002t0011 a0005c0011t0008 a0001c0002t0011 a0005c0011t0008	a0001c0002t0011g0278 a0005c0011t0008g0310 a0005c0011t0008g0312 others(1): Show a0001c0002t0011g0278 a0005c0011t0008g0310 a0005c0011t0008g0312 a0005c0011t0008g0313	4	340	0.0118	20	c.-17 others(37): Show c.-17+3689_-17+3708dupTTTTTTTTTTTTTTTTTTTT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R3_chr11_68455752_68620334	68477741	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0158 a0001c0004t0004g0158	1	252	0.0040	20	c.-15 others(41): Show c.-158+16915_-158+16916insAATATATATATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68477745	T T	TATATATA others(13): Show TATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0162 a0001c0001t0004g0163	2	252	0.0079	20	c.-15 others(41): Show c.-158+16937_-158+16938insGATATATATATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68511463	A A	AGAGTGTG others(13): Show AGAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	252	0.0040	20	c.-15 others(39): Show c.-157-8037_-157-8036insAGTGTGTGTGTGTGTGTGTG	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68511463	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG01978.hp1 others(16): Show HG01081.hp1 HG01243.hp1 HG01978.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp2 NA19078.hp2 NA19085.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0001t0026 a0001c0001t0028 a0005c0005t0012	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 others(16): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0245 a0001c0001t0005g0204 a0001c0001t0008g0199 a0001c0001t0009g0201 a0001c0001t0019g0209 a0001c0001t0026g0208 a0001c0001t0028g0206 a0005c0005t0012g0141	19	252	0.0754	20	c.-15 others(39): Show c.-157-8025_-157-8006dupGTGTGTGTGTGTGTGTGTGT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68542389	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0179 a0001c0001t0014g0179	1	252	0.0040	20	c.228 others(37): Show c.228-2446_228-2427dupTTTTTTTTTTTTTTTTTTTT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPT1_chr1_40067712_40102252	40089286	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19066.hp2 NA18949.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0124 a0001c0001t0005g0129 a0001c0001t0005g0124 a0001c0001t0005g0129	2	396	0.0051	20	c.536 others(35): Show c.536+123_536+124insTTTTTTTTTTTTTTTTTTTT	PPT1	ENSG00000131238.18	transcript	ENST00000642050.2	protein_coding	5/8			chr1	TogoVar
PPT2_chr6_32149141_32168675	32159451	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	423	0.0024	20	c.710 others(37): Show c.710+1528_710+1529insAAAAAAAAAAAATATATATA	PPT2	ENSG00000221988.13	transcript	ENST00000324816.11	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPWD1_chr5_65558296_65592549	65573516	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02683.hp2 HG00609.hp1 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0230 a0001c0002t0001g0210 a0001c0002t0001g0230	2	384	0.0052	20	c.969 others(37): Show c.969+1248_969+1267dupTTTTTTTTTTTTTTTTTTTT	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPWD1_chr5_65558296_65592549	65591645	T T	TTATATAT others(13): Show TTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02004.hp2 others(8): Show HG01256.hp1 HG01258.hp2 HG02004.hp2 HG02723.hp2 HG02895.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA19057.hp1 NA19058.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0266	11	384	0.0287	20	c.42 others(31): Show c.4249_*4250insTATATATATATATATATATA	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding		4097		chr5	TogoVar
PRAG1_chr8_8312736_8391439	8315874	A A	ATTTCTTT others(13): Show ATTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG02451.hp1 others(4): Show HG00099.hp1 HG00741.hp1 HG02451.hp1 HG02717.hp2 HG02886.hp2 HG02922.hp2 HG03209.hp1	a0005 a0015 a0016 others(2): Show a0005 a0015 a0016 a0019 a0039	a0005c0005 a0015c0019 a0016c0026 others(2): Show a0005c0005 a0015c0019 a0016c0026 a0019c0037 a0039c0032	a0005c0005t0001 a0005c0005t0002 a0015c0019t0001 others(3): Show a0005c0005t0001 a0005c0005t0002 a0015c0019t0001 a0016c0026t0002 a0019c0037t0002 a0039c0032t0001	a0005c0005t0001g0207 a0005c0005t0002g0148 a0005c0005t0002g0149 others(4): Show a0005c0005t0001g0207 a0005c0005t0002g0148 a0005c0005t0002g0149 a0015c0019t0001g0197 a0016c0026t0002g0145 a0019c0037t0002g0085 a0039c0032t0001g0205	7	336	0.0208	20	c.22 others(31): Show c.2279_*2280insGAAAGAAAGAAAGAAAGAAA	PRAG1	ENSG00000275342.6	transcript	ENST00000615670.5	protein_coding		1861		chr8	TogoVar
PRAMEF14_chr1_13336892_13352134	13349132	A A	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 NA18942.hp2 HG02109.hp2 NA18942.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0006 a0001c0001 a0011c0006	a0001c0001t0004 a0011c0006t0001 a0001c0001t0004 a0011c0006t0001	a0001c0001t0004g0009 a0011c0006t0001g0032 a0001c0001t0004g0009 a0011c0006t0001g0032	2	256	0.0078	20	c.-21 others(31): Show c.-2102_-2101insCTTCTTTCTTTCTTTCTTTC	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		1999		chr1	TogoVar
PRAMEF14_chr1_13336892_13352134	13349132	A A	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0047 a0004c0007t0001g0047	1	256	0.0039	20	c.-21 others(31): Show c.-2102_-2101insCTTCCTTCTTTCTTTCTTTC	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		1999		chr1	TogoVar
PRAMEF14_chr1_13336892_13352134	13349132	A A	AGAAAGAA others(13): Show AGAAAGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	256	0.0039	20	c.-21 others(31): Show c.-2102_-2101insCTTCCTTCCTTCCTTCTTTC	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		1999		chr1	TogoVar
PRAMEF1_chr1_12786397_12801628	12789410	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	382	0.0026	20	c.-20 others(31): Show c.-2090_-2089insTCTTTCTTTCTTTCTTTCTT	PRAMEF1	ENSG00000116721.9	transcript	ENST00000332296.7	protein_coding		1986		chr1	TogoVar
PRAMEF1_chr1_12786397_12801628	12789459	T T	TCTTTCTT others(13): Show TCTTTCTTGCTTGCTTGCTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0003	1	382	0.0026	20	c.-20 others(31): Show c.-2041_-2040insCTTTCTTGCTTGCTTGCTTG	PRAMEF1	ENSG00000116721.9	transcript	ENST00000332296.7	protein_coding		1937		chr1	TogoVar
PRAMEF1_chr1_12786397_12801628	12789459	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTGCTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0003	1	382	0.0026	20	c.-20 others(31): Show c.-2041_-2040insCTTTCTTTCTTTCTTGCTTG	PRAMEF1	ENSG00000116721.9	transcript	ENST00000332296.7	protein_coding		1937		chr1	TogoVar
PRAMEF20_chr1_13405450_13426328	13417908	A A	AGTTGTGT others(13): Show AGTTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	442	0.0023	20	c.288 others(35): Show c.288-214_288-213insGTTGTGTGTGTGTGTGTGTG	PRAMEF20	ENSG00000204478.11	transcript	ENST00000602960.2	protein_coding	2/3			chr1	TogoVar
PRAMEF20_chr1_13405450_13426328	13417908	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01928.hp2 HG02080.hp1 others(1): Show HG01496.hp2 HG01928.hp2 HG02080.hp1 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0078 a0002c0003t0001g0146 a0002c0003t0001g0166 others(1): Show a0002c0003t0001g0078 a0002c0003t0001g0146 a0002c0003t0001g0166 a0002c0003t0001g0246	4	442	0.0091	20	c.288 others(35): Show c.288-213_288-212insGTGTGTGTGTGTGTGTGTGT	PRAMEF20	ENSG00000204478.11	transcript	ENST00000602960.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRAMEF8_chr1_13276304_13290137	13286146	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03098.hp2 NA18947.hp1 HG02622.hp1 HG03098.hp2 NA18947.hp1	a0002 a0005 a0002 a0005	a0002c0001 a0002c0006 a0005c0009 a0002c0001 a0002c0006 a0005c0009	a0002c0001t0001 a0002c0006t0001 a0005c0009t0001 a0002c0001t0001 a0002c0006t0001 a0005c0009t0001	a0002c0001t0001g0003 a0002c0006t0001g0016 a0005c0009t0001g0049 a0002c0001t0001g0003 a0002c0006t0001g0016 a0005c0009t0001g0049	3	332	0.0090	20	c.-10 others(31): Show c.-1076_-1075insCCCTCCCTCCCTTCCTTCCT	PRAMEF8	ENSG00000182330.11	transcript	ENST00000357367.7	protein_coding		1010		chr1	TogoVar
PRB3_chr12_11260914_11274707	11272515	T T	TTTATATT others(13): Show TTTATATTATATTATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	443	0.0023	20	c.-28 others(31): Show c.-2847_-2846insTATAATATAATATAATATAA	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding		2809		chr12	TogoVar
PRCC_chr1_156762535_156805815	156792053	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	350	0.0029	20	c.117 others(37): Show c.1179+270_1179+289dupTTTTTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCC_chr1_156762535_156805815	156795285	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG04199.hp2 others(1): Show HG00639.hp2 HG01361.hp2 HG04199.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0285 a0001c0001t0001g0292 others(1): Show a0001c0001t0001g0266 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0300	4	350	0.0114	20	c.132 others(37): Show c.1323+482_1323+501dupTTTTTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCP_chr11_82817936_82905430	82882875	A A	ACACACAC others(13): Show ACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG02135.hp2 others(5): Show HG00140.hp2 HG01109.hp1 HG02135.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03209.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0002c0003t0001 a0003c0005t0013	a0001c0001t0002g0069 a0001c0001t0006g0114 a0001c0001t0012g0263 others(4): Show a0001c0001t0002g0069 a0001c0001t0006g0114 a0001c0001t0012g0263 a0001c0001t0012g0265 a0002c0003t0001g0070 a0003c0005t0013g0006 a0003c0005t0013g0071	8	320	0.0250	20	c.168 others(39): Show c.168+17359_168+17360insAGTGTGTGTGTGTGTGTGTG	PRCP	ENSG00000137509.12	transcript	ENST00000313010.8	protein_coding	1/8			chr11	TogoVar
PRDM10_chr11_129894711_130007835	129895363	A A	ACCGCTCC others(13): Show ACCGCTCCCCACGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0011 a0003c0022t0011	a0003c0022t0011g0142 a0003c0022t0011g0142	1	326	0.0031	20	c.69 others(31): Show c.6930_*6949dupGAGCGGGGCGTGGGGAGCGG	PRDM10	ENSG00000170325.16	transcript	ENST00000360871.8	protein_coding		4347		chr11	TogoVar
PRDM10_chr11_129894711_130007835	129923643	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18990.hp2 NA19063.hp1 NA18973.hp2 NA18990.hp2 NA19063.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0003 a0003c0002 a0011c0054 a0001c0003 a0003c0002 a0011c0054	a0001c0003t0001 a0003c0002t0001 a0011c0054t0001 a0001c0003t0001 a0003c0002t0001 a0011c0054t0001	a0001c0003t0001g0207 a0003c0002t0001g0098 a0011c0054t0001g0214 a0001c0003t0001g0207 a0003c0002t0001g0098 a0011c0054t0001g0214	3	326	0.0092	20	c.187 others(37): Show c.1879-260_1879-241dupTCTCTCTCTCTCTCTCTCTC	PRDM10	ENSG00000170325.16	transcript	ENST00000360871.8	protein_coding	12/20			chr11	TogoVar
PRDM10_chr11_129894711_130007835	129960642	A A	AACAGATT others(13): Show AACAGATTATGACAGTAAATT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0088 a0001c0009t0001g0088	1	326	0.0031	20	c.69+ others(33): Show c.69+234_69+253dupAATTTACTGTCATAATCTGT	PRDM10	ENSG00000170325.16	transcript	ENST00000360871.8	protein_coding	2/20			chr11	TogoVar
PRDM10_chr11_129894711_130007835	129963382	G G	GAAAAGAG others(13): Show GAAAAGAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01517.hp1 HG01517.hp2 others(10): Show HG01261.hp1 HG01517.hp1 HG01517.hp2 HG02559.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG03041.hp1 HG03579.hp2 NA18982.hp1 NA18990.hp1 NA19010.hp2 NA19063.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0011	a0001c0003 a0001c0004 a0001c0011 others(7): Show a0001c0003 a0001c0004 a0001c0011 a0001c0012 a0001c0013 a0001c0020 a0001c0060 a0002c0001 a0009c0064 a0011c0054	a0001c0003t0001 a0001c0004t0003 a0001c0011t0015 others(7): Show a0001c0003t0001 a0001c0004t0003 a0001c0011t0015 a0001c0012t0019 a0001c0013t0004 a0001c0020t0008 a0001c0060t0011 a0002c0001t0002 a0009c0064t0004 a0011c0054t0001	a0001c0003t0001g0002 a0001c0003t0001g0217 a0001c0004t0003g0216 others(9): Show a0001c0003t0001g0002 a0001c0003t0001g0217 a0001c0004t0003g0216 a0001c0011t0015g0173 a0001c0012t0019g0318 a0001c0013t0004g0165 a0001c0020t0008g0132 a0001c0020t0008g0222 a0001c0060t0011g0280 a0002c0001t0002g0308 a0009c0064t0004g0163 a0011c0054t0001g0214	13	326	0.0399	20	c.-11 others(39): Show c.-118-2301_-118-2300insTCTCTTCTCTTCTCTCTTTT	PRDM10	ENSG00000170325.16	transcript	ENST00000360871.8	protein_coding	1/20			chr11	TogoVar
PRDM10_chr11_129894711_130007835	129963382	G G	GAGAGAAG others(13): Show GAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01978.hp1 NA19009.hp1 others(1): Show HG01167.hp2 HG01978.hp1 NA19009.hp1 NA19090.hp1	a0002 a0002	a0002c0001 a0002c0014 a0002c0001 a0002c0014	a0002c0001t0002 a0002c0001t0005 a0002c0014t0007 a0002c0001t0002 a0002c0001t0005 a0002c0014t0007	a0002c0001t0002g0061 a0002c0001t0002g0097 a0002c0001t0005g0270 others(1): Show a0002c0001t0002g0061 a0002c0001t0002g0097 a0002c0001t0005g0270 a0002c0014t0007g0261	4	326	0.0123	20	c.-11 others(39): Show c.-118-2320_-118-2301dupTCTCTTCTCTTCTCTTCTCT	PRDM10	ENSG00000170325.16	transcript	ENST00000360871.8	protein_coding	1/20			chr11	TogoVar

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