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
PUS7L_chr12_43713992_43763790	43718805	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	306	0.0033	20	c.11 others(33): Show c.11570_*11571insATATATATATATATATATAT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		186		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0048 a0002c0002t0003 a0002c0002t0048	a0002c0002t0003g0028 a0002c0002t0048g0177 a0002c0002t0003g0028 a0002c0002t0048g0177	2	306	0.0065	20	c.11 others(33): Show c.11568_*11569insATATATATATTTTTTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02572.hp2 HG01255.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0050 a0002c0002t0005 a0002c0002t0050	a0002c0002t0005g0062 a0002c0002t0050g0173 a0002c0002t0005g0062 a0002c0002t0050g0173	2	306	0.0065	20	c.11 others(33): Show c.11568_*11569insATATATATATATATATTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105455576	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 NA21309.hp2 HG02300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0145 a0001c0004t0001g0082 a0001c0001t0001g0145 a0001c0004t0001g0082	2	350	0.0057	20	c.21 others(31): Show c.2194_*2213dupATATATATATATATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		926		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0323 a0001c0001t0002g0304 a0001c0001t0002g0323	2	350	0.0057	20	c.17 others(31): Show c.1713_*1714insATATATATATATATATTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456102	T T	TATATATA others(13): Show TATATATATATATAAATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	350	0.0029	20	c.16 others(31): Show c.1687_*1688insTTATATTTATATATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		400		chr7	TogoVar
PUS7_chr7_105451503_105527271	105496224	T T	TAGAGAGA others(13): Show TAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	350	0.0029	20	c.731 others(35): Show c.731-972_731-971insCTCTCTCTCTCTCTCTCTCT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	5/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105496226	T T	TATAGAGA others(13): Show TATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	350	0.0029	20	c.731 others(35): Show c.731-974_731-973insCTCTCTCTCTCTCTCTCTAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	5/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105505003	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp2 others(5): Show HG01069.hp1 HG01071.hp2 HG01175.hp2 HG01257.hp2 HG02040.hp1 HG02056.hp2 HG02135.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0305 others(5): Show a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0317 a0001c0001t0002g0328	8	350	0.0229	20	c.585 others(35): Show c.585+951_585+952insAAAAAAAAAAAAAAAAAAAA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	4/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02135.hp2 HG00597.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0339 a0001c0001t0004g0342 a0001c0001t0004g0339 a0001c0001t0004g0342	2	350	0.0057	20	c.-32 others(35): Show c.-32-660_-32-641dupTTTTTTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105515791	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02165.hp2 HG02559.hp1 others(11): Show HG02040.hp2 HG02165.hp2 HG02559.hp1 HG02622.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03225.hp1 HG03540.hp1 HG03927.hp2 HG04199.hp1 NA18960.hp2 NA19055.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0224 others(11): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0224 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0005g0036 a0001c0001t0005g0223 a0001c0001t0008g0293 a0001c0001t0010g0289	14	350	0.0400	20	c.-33 others(37): Show c.-33+6241_-33+6260dupTAAATAAATAAATAAATAAA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PVR_chr19_44638910_44671162	44645415	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0091 a0001c0001t0010g0091	1	412	0.0024	20	c.79+ others(35): Show c.79+1251_79+1270dupTATATATATATATATATATA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PWWP2A_chr5_160086339_160124450	160092013	G G	GATATATA others(13): Show GATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp2 others(40): Show HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00621.hp1 HG00741.hp1 HG01109.hp2 HG01256.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02040.hp2 HG02148.hp2 HG02293.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG03491.hp2 HG03831.hp2 HG04204.hp1 HG04204.hp2 NA18954.hp2 NA18962.hp1 NA18963.hp1 NA18969.hp2 NA18973.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA19002.hp1 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19077.hp2 NA19078.hp2 NA19085.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0016 a0001c0001 a0001c0006 a0004c0016	a0001c0001t0003 a0001c0001t0011 a0001c0001t0046 others(3): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0046 a0001c0001t0058 a0001c0006t0003 a0004c0016t0003	a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0030 others(40): Show a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0066 a0001c0001t0003g0183 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0205 a0001c0001t0003g0208 a0001c0001t0003g0221 a0001c0001t0003g0224 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0238 a0001c0001t0003g0245 a0001c0001t0003g0249 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0275 a0001c0001t0003g0281 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0296 a0001c0001t0011g0225 a0001c0001t0011g0247 a0001c0001t0011g0256 a0001c0001t0011g0257 a0001c0001t0011g0289 a0001c0001t0046g0215 a0001c0001t0058g0380 a0001c0006t0003g0371 a0001c0006t0003g0372 a0001c0006t0003g0373 a0004c0016t0003g0379	43	384	0.1120	20	c.36 others(29): Show c.368_*369insATATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	2/2	368		chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109772	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	384	0.0026	20	c.584 others(37): Show c.584+9032_584+9033insATATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109774	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	384	0.0026	20	c.584 others(37): Show c.584+9011_584+9030dupATATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PXDNL_chr8_51314577_51814445	51452935	A A	AACACATA others(13): Show AACACATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp2 HG01167.hp1 others(13): Show HG01070.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01517.hp1 HG01517.hp2 HG01975.hp1 HG02922.hp1 HG03492.hp1 HG03492.hp2 NA18522.hp1 NA18947.hp1 NA18956.hp1 NA18979.hp2 NA19086.hp1 NA20129.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0031	a0001c0001 a0003c0033 a0004c0004 others(2): Show a0001c0001 a0003c0033 a0004c0004 a0006c0007 a0031c0031	a0001c0001t0001 a0001c0001t0002 a0003c0033t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0003c0033t0001 a0004c0004t0003 a0006c0007t0001 a0006c0007t0002 a0031c0031t0002	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 others(13): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0116 a0001c0001t0002g0118 a0003c0033t0001g0035 a0004c0004t0003g0001 a0006c0007t0001g0031 a0006c0007t0002g0099 a0031c0031t0002g0121	16	122	0.1312	20	c.124 others(37): Show c.1249+583_1249+584insGTGTGTGTGTGTGTATGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	10/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51455115	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19030.hp1 HG01109.hp2 NA19030.hp1	a0001 a0033 a0001 a0033	a0001c0001 a0033c0035 a0001c0001 a0033c0035	a0001c0001t0002 a0033c0035t0003 a0001c0001t0002 a0033c0035t0003	a0001c0001t0002g0098 a0033c0035t0003g0011 a0001c0001t0002g0098 a0033c0035t0003g0011	2	122	0.0164	20	c.983 others(37): Show c.983-1331_983-1330insTTTTTTTTTTTTTTTTTTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	9/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51553771	T T	TATATATA others(13): Show TATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0064 a0009c0008t0001g0064	1	122	0.0082	20	c.380 others(37): Show c.380+3068_380+3069insGTGTGTATATATATATATAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51553771	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG02615.hp1 HG00741.hp2 HG01884.hp2 HG02615.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0037 a0004c0004t0001g0049 a0004c0004t0001g0065 a0004c0004t0001g0037 a0004c0004t0001g0049 a0004c0004t0001g0065	3	122	0.0246	20	c.380 others(37): Show c.380+3068_380+3069insGTATATATATATATATATAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51565321	A A	AATAAATA others(13): Show AATAAATAAATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA18959.hp2 HG01256.hp2 NA18959.hp2	a0002 a0020 a0002 a0020	a0002c0002 a0020c0038 a0002c0002 a0020c0038	a0002c0002t0002 a0020c0038t0002 a0002c0002t0002 a0020c0038t0002	a0002c0002t0002g0104 a0020c0038t0002g0119 a0002c0002t0002g0104 a0020c0038t0002g0119	2	122	0.0164	20	c.309 others(37): Show c.309-8411_309-8410insCTATCTATCTATTTATTTAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51577999	G G	GAAAGAGG others(13): Show GAAAGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0015 a0002c0002t0004g0015	1	122	0.0082	20	c.308 others(39): Show c.308+14627_308+14628insTCCTTCCTTCCTTCCTCTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51581493	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03669.hp2 NA18956.hp2 HG02258.hp1 HG03669.hp2 NA18956.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0011 a0002c0002 a0003c0003 a0001c0011 a0002c0002 a0003c0003	a0001c0011t0002 a0002c0002t0001 a0003c0003t0001 a0001c0011t0002 a0002c0002t0001 a0003c0003t0001	a0001c0011t0002g0100 a0002c0002t0001g0039 a0003c0003t0001g0021 a0001c0011t0002g0100 a0002c0002t0001g0039 a0003c0003t0001g0021	3	122	0.0246	20	c.308 others(39): Show c.308+11114_308+11133dupTTTATTTATTTATTTATTTA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51607854	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0016 a0016	a0016c0044 a0016c0044	a0016c0044t0001 a0016c0044t0001	a0016c0044t0001g0061 a0016c0044t0001g0061	1	122	0.0082	20	c.237 others(39): Show c.237-15176_237-15157dupTCCTTCCTTCCTTCCTTCCT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51607872	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0058 a0011c0013t0001g0058	1	122	0.0082	20	c.237 others(39): Show c.237-15175_237-15174insTTTCCTTCCTTCCTTCCTTC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51607887	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp1 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0110 a0001c0001t0003g0013 a0001c0001t0002g0110 a0001c0001t0003g0013	2	122	0.0164	20	c.237 others(39): Show c.237-15190_237-15189insCTCCTTCCTTCCTTCCTTCC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51644318	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03492.hp1 NA18747.hp1 others(4): Show HG03017.hp2 HG03492.hp1 NA18747.hp1 NA18984.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0013 a0031	a0001c0001 a0002c0037 a0003c0003 others(2): Show a0001c0001 a0002c0037 a0003c0003 a0013c0010 a0031c0031	a0001c0001t0001 a0001c0001t0002 a0002c0037t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0037t0001 a0003c0003t0002 a0013c0010t0002 a0031c0031t0002	a0001c0001t0001g0047 a0001c0001t0002g0103 a0001c0001t0002g0113 others(4): Show a0001c0001t0001g0047 a0001c0001t0002g0103 a0001c0001t0002g0113 a0002c0037t0001g0087 a0003c0003t0002g0107 a0013c0010t0002g0094 a0031c0031t0002g0121	7	122	0.0574	20	c.236 others(39): Show c.236+10370_236+10371insTATATATATATATATATATA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51644406	A A	ATATGTAT others(13): Show ATATGTATATATATACATATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01167.hp2 HG02109.hp1 others(12): Show HG01070.hp2 HG01167.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02486.hp1 HG02630.hp1 HG02896.hp2 HG02922.hp2 HG03486.hp1 HG06807.hp2 NA18522.hp2 NA19043.hp2 NA19240.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0009 a0011 a0012 a0016 a0022 a0028	a0001c0011 a0002c0002 a0003c0005 others(7): Show a0001c0011 a0002c0002 a0003c0005 a0006c0024 a0009c0008 a0011c0013 a0012c0014 a0016c0044 a0022c0048 a0028c0026	a0001c0011t0003 a0002c0002t0001 a0002c0002t0003 others(10): Show a0001c0011t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0005t0003 a0006c0024t0003 a0009c0008t0001 a0009c0008t0003 a0011c0013t0001 a0012c0014t0003 a0016c0044t0001 a0022c0048t0001 a0028c0026t0003	a0001c0011t0003g0008 a0002c0002t0001g0067 a0002c0002t0001g0068 others(12): Show a0001c0011t0003g0008 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0003g0017 a0002c0002t0004g0015 a0003c0005t0003g0003 a0006c0024t0003g0009 a0009c0008t0001g0059 a0009c0008t0001g0064 a0009c0008t0003g0007 a0011c0013t0001g0066 a0012c0014t0003g0018 a0016c0044t0001g0061 a0022c0048t0001g0069 a0028c0026t0003g0002	15	122	0.1230	20	c.236 others(39): Show c.236+10282_236+10283insCATATGTATATATATACATA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51683164	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	122	0.0082	20	c.165 others(39): Show c.165-28424_165-28405dupATATATATATATATATATAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51743908	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01884.hp1 HG03516.hp1 others(4): Show HG01517.hp2 HG01884.hp1 HG03516.hp1 HG03579.hp1 HG06807.hp2 NA19030.hp1 NA20129.hp1	a0002 a0005 a0006 others(2): Show a0002 a0005 a0006 a0017 a0033	a0002c0002 a0005c0015 a0006c0007 others(3): Show a0002c0002 a0005c0015 a0006c0007 a0006c0024 a0017c0017 a0033c0035	a0002c0002t0001 a0005c0015t0001 a0006c0007t0001 others(4): Show a0002c0002t0001 a0005c0015t0001 a0006c0007t0001 a0006c0007t0002 a0006c0024t0003 a0017c0017t0001 a0033c0035t0003	a0002c0002t0001g0053 a0005c0015t0001g0030 a0006c0007t0001g0031 others(4): Show a0002c0002t0001g0053 a0005c0015t0001g0030 a0006c0007t0001g0031 a0006c0007t0002g0099 a0006c0024t0003g0009 a0017c0017t0001g0054 a0033c0035t0003g0011	7	122	0.0574	20	c.164 others(39): Show c.164+65253_164+65272dupCCTTCCTTCCTTCCTTCCTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51744119	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0107 a0003c0003t0002g0107	1	122	0.0082	20	c.164 others(39): Show c.164+65061_164+65062insCCTTTCTTTCTTTCTTTCTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1658083	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCTCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0263 a0001c0003t0001g0263	1	322	0.0031	20	c.183 others(39): Show c.1837+2797_1837+2798insGGGGAGAGAGAGAGAGAGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	14/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1719897	T T	TCAGAGAG others(13): Show TCAGAGAGAGAGGGAGGGATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp2 others(51): Show HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG01099.hp1 HG01109.hp1 HG01255.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02809.hp1 HG02922.hp1 HG02965.hp2 HG03209.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03834.hp1 HG04184.hp1 NA18942.hp2 NA18947.hp2 NA18962.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18985.hp2 NA18997.hp2 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19062.hp2 NA19068.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA20805.hp1 NA20905.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0015 a0001c0045 a0010c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0002t0002 a0001c0002t0003 a0001c0002t0032 a0001c0003t0001 a0001c0003t0002 a0001c0004t0004 a0001c0005t0007 a0001c0006t0013 a0001c0008t0002 a0001c0015t0003 a0001c0045t0002 a0010c0043t0006	a0001c0001t0001g0034 a0001c0001t0001g0066 a0001c0001t0001g0069 others(51): Show a0001c0001t0001g0034 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0214 a0001c0001t0001g0292 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0143 a0001c0001t0002g0158 a0001c0001t0002g0211 a0001c0001t0002g0271 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0003g0117 a0001c0001t0005g0300 a0001c0001t0015g0037 a0001c0002t0002g0092 a0001c0002t0002g0201 a0001c0002t0003g0051 a0001c0002t0003g0074 a0001c0002t0003g0102 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0159 a0001c0002t0003g0279 a0001c0002t0032g0289 a0001c0003t0001g0110 a0001c0003t0001g0283 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0002g0287 a0001c0004t0004g0306 a0001c0004t0004g0312 a0001c0005t0007g0161 a0001c0006t0013g0310 a0001c0008t0002g0297 a0001c0015t0003g0116 a0001c0045t0002g0119 a0010c0043t0006g0062	54	322	0.1677	20	c.200 others(39): Show c.200+24358_200+24359insCATCCCTCCCTCTCTCTCTG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720612	G G	GCTCTCTC others(13): Show GCTCTCTCTGCATCTCTTTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(138): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp2 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp1 HG01433.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18991.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1	a0001 a0005 a0012 others(1): Show a0001 a0005 a0012 a0014	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0013 a0001c0015 a0001c0016 a0001c0023 a0001c0026 a0001c0030 a0001c0033 a0001c0035 a0001c0037 a0001c0039 a0001c0040 a0001c0045 a0005c0017 a0012c0021 a0014c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0031 a0001c0001t0033 a0001c0002t0003 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0004t0004 a0001c0006t0004 a0001c0006t0008 a0001c0008t0002 a0001c0010t0008 a0001c0013t0002 a0001c0015t0003 a0001c0016t0005 a0001c0023t0004 a0001c0026t0001 a0001c0030t0001 a0001c0033t0001 a0001c0035t0003 a0001c0037t0006 a0001c0039t0006 a0001c0040t0030 a0001c0045t0002 a0005c0017t0001 a0012c0021t0002 a0014c0031t0002	a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0066 others(138): Show a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0313 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0192 a0001c0001t0002g0213 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0249 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0277 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0180 a0001c0001t0003g0241 a0001c0001t0005g0175 a0001c0001t0005g0212 a0001c0001t0005g0300 a0001c0001t0009g0068 a0001c0001t0009g0073 a0001c0001t0009g0178 a0001c0001t0009g0181 a0001c0001t0010g0318 a0001c0001t0012g0272 a0001c0001t0012g0278 a0001c0001t0015g0316 a0001c0001t0031g0215 a0001c0001t0033g0185 a0001c0002t0003g0074 a0001c0002t0003g0097 a0001c0002t0003g0098 a0001c0002t0003g0100 a0001c0002t0003g0102 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0142 a0001c0002t0003g0159 a0001c0002t0003g0183 a0001c0002t0003g0187 a0001c0002t0003g0217 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0239 a0001c0002t0003g0279 a0001c0002t0003g0296 a0001c0002t0003g0314 a0001c0003t0002g0012 a0001c0003t0002g0033 a0001c0003t0002g0317 a0001c0003t0008g0305 a0001c0003t0012g0255 a0001c0004t0004g0164 a0001c0004t0004g0311 a0001c0006t0004g0232 a0001c0006t0008g0315 a0001c0008t0002g0202 a0001c0008t0002g0273 a0001c0008t0002g0276 a0001c0008t0002g0297 a0001c0008t0002g0298 a0001c0008t0002g0319 a0001c0010t0008g0309 a0001c0013t0002g0307 a0001c0015t0003g0116 a0001c0015t0003g0118 a0001c0016t0005g0001 a0001c0023t0004g0231 a0001c0026t0001g0261 a0001c0030t0001g0308 a0001c0033t0001g0216 a0001c0035t0003g0099 a0001c0037t0006g0285 a0001c0039t0006g0045 a0001c0040t0030g0088 a0001c0045t0002g0119 a0005c0017t0001g0128 a0012c0021t0002g0251 a0014c0031t0002g0120	141	322	0.4379	20	c.200 others(39): Show c.200+23624_200+23643dupAGAAAGAGATGCAGAGAGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720645	C C	CTCTTTCT others(13): Show CTCTTTCTCTCTCTCTGCATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02622.hp1 others(6): Show HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02970.hp1 HG03130.hp2 HG03486.hp2 HG03540.hp2 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0002c0009 a0003c0042	a0001c0001t0009 a0001c0001t0010 a0001c0004t0004 others(4): Show a0001c0001t0009 a0001c0001t0010 a0001c0004t0004 a0001c0005t0024 a0001c0006t0004 a0002c0009t0011 a0003c0042t0005	a0001c0001t0009g0039 a0001c0001t0010g0208 a0001c0004t0004g0029 others(6): Show a0001c0001t0009g0039 a0001c0001t0010g0208 a0001c0004t0004g0029 a0001c0004t0004g0209 a0001c0005t0024g0203 a0001c0006t0004g0286 a0002c0009t0011g0081 a0002c0009t0011g0220 a0003c0042t0005g0219	9	322	0.0280	20	c.200 others(39): Show c.200+23610_200+23611insCATGCAGAGAGAGAGAAAGA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132693836	T T	TAGTTAGT others(13): Show TAGTTAGTGAGCGCCCTTGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01168.hp1 others(12): Show HG00280.hp1 HG00639.hp2 HG01168.hp1 HG01169.hp2 HG02027.hp2 HG04204.hp2 NA18942.hp1 NA18955.hp2 NA18977.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19082.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0003 a0001c0003t0003 a0001c0008t0003	a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0044 others(9): Show a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0147 a0001c0003t0003g0148 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0156 a0001c0003t0003g0170 a0001c0008t0003g0095	15	350	0.0429	20	c.237 others(37): Show c.237-2037_237-2036insGCCCTTGCCAGTTAGTGAGC	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP4_chr20_33697758_33725310	33717639	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0162 a0001c0001t0052g0162	1	388	0.0026	20	c.113 others(37): Show c.113+2455_113+2456insTTTTTTTTTTTTTTTTTTTT	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	1/3			chr20	TogoVar
PXT1_chr6_36385551_36447854	36409824	T T	TGGAAGGA others(13): Show TGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02004.hp2 HG02148.hp1 others(7): Show HG01952.hp1 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG03041.hp1 HG03209.hp2 HG03453.hp2 HG03491.hp2 NA18986.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 others(7): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0002g0137 a0001c0001t0003g0018 a0002c0002t0001g0282	10	390	0.0256	20	c.170 others(37): Show c.170-9260_170-9241dupTTCCTTCCTTCCTTCCTTCC	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36425800	C C	CAAAAACA others(13): Show CAAAAACAAACAAACAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02970.hp2 HG00741.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0152 a0001c0001t0001g0155	2	390	0.0051	20	c.169 others(35): Show c.169+113_169+114insTTTTTTGTTTGTTTGTTTTT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36425800	C C	CAAAAACA others(13): Show CAAAAACAAACAAACAAACAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	390	0.0026	20	c.169 others(35): Show c.169+113_169+114insTTGTTTGTTTGTTTGTTTTT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36425805	A A	ACAAACAA others(13): Show ACAAACAAACAAACAAAATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0306 a0001c0003t0001g0307	2	390	0.0051	20	c.169 others(35): Show c.169+108_169+109insATATTTTGTTTGTTTGTTTG	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4			chr6	TogoVar
PXYLP1_chr3_141226825_141299924	141248620	C C	CACACACG others(13): Show CACACACGTGTATATGTATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	384	0.0026	20	c.-53 others(39): Show c.-53-11495_-53-11494insGTATATGTATATACACACGT	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PYCARD_chr16_31196486_31207760	31205946	T T	TTTTCCTT others(13): Show TTTTCCTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	354	0.0028	20	c.-32 others(31): Show c.-3257_-3256insGAAAGAAAGAAAGAAGGAAA	PYCARD	ENSG00000103490.14	transcript	ENST00000247470.10	protein_coding		3187		chr16	TogoVar
PYCARD_chr16_31196486_31207760	31205946	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01517.hp1 HG02258.hp2 others(5): Show HG01167.hp1 HG01517.hp1 HG02258.hp2 HG02523.hp1 HG03491.hp2 NA18940.hp1 NA18941.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	354	0.0226	20	c.-32 others(31): Show c.-3257_-3256insGAAAGAAAGAAAGAAAGAAA	PYCARD	ENSG00000103490.14	transcript	ENST00000247470.10	protein_coding		3187		chr16	TogoVar
PYCR2_chr1_225914878_225929250	225925498	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01978.hp1 HG02132.hp2 others(2): Show HG01106.hp2 HG01978.hp1 HG02132.hp2 HG02293.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0005 a0001c0001t0003g0006 a0001c0001t0005g0009 others(1): Show a0001c0001t0001g0005 a0001c0001t0003g0006 a0001c0001t0005g0009 a0001c0001t0014g0045	5	448	0.0112	20	c.-13 others(31): Show c.-1389_-1388insTAAATAAATAAATAAATAAA	PYCR2	ENSG00000143811.20	transcript	ENST00000343818.11	protein_coding		1249		chr1	TogoVar
PYCR2_chr1_225914878_225929250	225925524	T T	TTATTTAT others(13): Show TTATTTATTTATTTATTTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01168.hp1 HG01243.hp1 others(18): Show HG00609.hp1 HG01168.hp1 HG01243.hp1 HG02040.hp1 HG02040.hp2 HG02129.hp1 HG02165.hp2 HG04184.hp1 NA18940.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp1 NA18974.hp1 NA18979.hp2 NA18982.hp2 NA18985.hp2 NA18992.hp1 NA19060.hp2 NA19084.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0006g0011 a0001c0001t0012g0043 a0001c0002t0001g0002	21	448	0.0469	20	c.-14 others(31): Show c.-1415_-1414insGATAAATAAATAAATAAATA	PYCR2	ENSG00000143811.20	transcript	ENST00000343818.11	protein_coding		1275		chr1	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTCTCTCT others(13): Show CTCTCTCTTTCTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	434	0.0023	20	c.15 others(31): Show c.1564_*1565insTCTCTCTTTCTCTCTTTCTT	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1565		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01433.hp2 others(3): Show HG01109.hp2 HG01243.hp2 HG01433.hp2 HG02280.hp1 HG02572.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0000 a0002c0003t0001g0000 a0002c0002t0001g0000 a0002c0003t0001g0000	6	434	0.0138	20	c.15 others(31): Show c.1564_*1565insTCTTTCTTTCTTTCTTTCTT	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1565		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463090	T T	TCTCCCTC others(13): Show TCTCCCTCCCTCCCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00738.hp2 others(34): Show HG00280.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02683.hp1 HG02683.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03834.hp2 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	37	434	0.0853	20	c.16 others(31): Show c.1634_*1635insCTCCCTCCCTCCCTCCCTCC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1635		chr3	TogoVar
PYGB_chr20_25243085_25303012	25247993	T T	TCCCGAGG others(13): Show TCCCGAGGCCCCGCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG02630.hp2 others(8): Show HG02145.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp2 HG03491.hp2 HG03492.hp1 HG04115.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0022 a0001c0001t0003g0259 a0001c0001t0003g0260 others(6): Show a0001c0001t0003g0022 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0002t0002g0088	11	372	0.0296	20	c.-18 others(29): Show c.-186_-185insCCCGAGGCCCCGCCCCGCCC	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding		91		chr20	TogoVar
PYGL_chr14_50900217_50949483	50942822	C C	CAAACAAA others(13): Show CAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0205 a0001c0005t0002g0205	1	390	0.0026	20	c.243 others(37): Show c.243+1319_243+1338dupTGTTTTGTTTTGTTTTGTTT	PYGL	ENSG00000100504.17	transcript	ENST00000216392.8	protein_coding	1/19			chr14	TogoVar

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