Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PARP4_chr13_24415931_24517778	24455506	T T	TATATATA others(11): Show TATATATATATATATCACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp1 HG02895.hp2 others(2): Show HG02257.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG06807.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0008 a0010c0011t0001g0009 a0010c0011t0001g0010 others(2): Show a0010c0011t0001g0008 a0010c0011t0001g0009 a0010c0011t0001g0010 a0010c0011t0001g0011 a0010c0011t0001g0012	5	362	0.0138	18	c.256 others(35): Show c.2563-295_2563-294insTGTGATATATATATATAT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24460457	C C	CGGGTGGG others(11): Show CGGGTGGGCTCTGCTGCAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02965.hp2 HG03704.hp2 others(4): Show HG02132.hp1 HG02965.hp2 HG03704.hp2 NA18955.hp1 NA18959.hp1 NA18969.hp1 NA18970.hp2	a0001 a0014 a0032 a0001 a0014 a0032	a0001c0001 a0014c0032 a0032c0051 a0001c0001 a0014c0032 a0032c0051	a0001c0001t0001 a0014c0032t0001 a0032c0051t0001 a0001c0001t0001 a0014c0032t0001 a0032c0051t0001	a0001c0001t0001g0217 a0001c0001t0001g0246 a0001c0001t0001g0247 others(4): Show a0001c0001t0001g0217 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0014c0032t0001g0081 a0032c0051t0001g0218	7	362	0.0193	18	c.213 others(35): Show c.2134-322_2134-321insATGCAGCAGAGCCCACCC	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	17/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24460501	C C	CTCTGCTG others(11): Show CTCTGCTGCACGGGTGGGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	362	0.0028	18	c.213 others(35): Show c.2134-366_2134-365insACCCACCCGTGCAGCAGA	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	17/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24491707	G G	GCCTTCCT others(11): Show GCCTTCCTCTACTCACTAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp2 HG01884.hp2 others(3): Show HG01123.hp1 HG01243.hp2 HG01884.hp2 HG02922.hp1 HG03130.hp1 HG03516.hp1	a0040 a0042 a0043 others(3): Show a0040 a0042 a0043 a0044 a0045 a0046	a0040c0029 a0042c0058 a0043c0057 others(3): Show a0040c0029 a0042c0058 a0043c0057 a0044c0059 a0045c0060 a0046c0061	a0040c0029t0002 a0042c0058t0001 a0043c0057t0001 others(3): Show a0040c0029t0002 a0042c0058t0001 a0043c0057t0001 a0044c0059t0001 a0045c0060t0001 a0046c0061t0001	a0040c0029t0002g0356 a0042c0058t0001g0020 a0043c0057t0001g0021 others(3): Show a0040c0029t0002g0356 a0042c0058t0001g0020 a0043c0057t0001g0021 a0044c0059t0001g0322 a0045c0060t0001g0023 a0046c0061t0001g0024	6	362	0.0166	18	c.105 others(35): Show c.1053+696_1053+713dupTTAGTGAGTAGAGGAAGG	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	9/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24500527	A A	AAAGAGGA others(11): Show AAAGAGGAAGGTATATTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00735.hp2 others(21): Show HG00323.hp1 HG00639.hp2 HG00735.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02129.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02622.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG04199.hp1 HG06807.hp2 NA18906.hp1 NA18946.hp1 NA20752.hp2	a0006 a0008 a0010 others(4): Show a0006 a0008 a0010 a0015 a0020 a0021 a0041	a0006c0006 a0008c0010 a0010c0011 others(4): Show a0006c0006 a0008c0010 a0010c0011 a0015c0016 a0020c0027 a0021c0028 a0041c0056	a0006c0006t0001 a0008c0010t0003 a0010c0011t0001 others(4): Show a0006c0006t0001 a0008c0010t0003 a0010c0011t0001 a0015c0016t0001 a0020c0027t0001 a0021c0028t0001 a0041c0056t0001	a0006c0006t0001g0344 a0006c0006t0001g0345 a0006c0006t0001g0346 others(21): Show a0006c0006t0001g0344 a0006c0006t0001g0345 a0006c0006t0001g0346 a0006c0006t0001g0347 a0006c0006t0001g0348 a0006c0006t0001g0349 a0006c0006t0001g0350 a0008c0010t0003g0014 a0008c0010t0003g0015 a0008c0010t0003g0016 a0008c0010t0003g0017 a0008c0010t0003g0018 a0008c0010t0003g0019 a0010c0011t0001g0008 a0010c0011t0001g0009 a0010c0011t0001g0010 a0010c0011t0001g0011 a0010c0011t0001g0012 a0015c0016t0001g0025 a0015c0016t0001g0026 a0015c0016t0001g0027 a0020c0027t0001g0013 a0021c0028t0001g0326 a0041c0056t0001g0022	24	362	0.0663	18	c.335 others(33): Show c.335-146_335-145insACAATATACCTTCCTCTT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	3/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24510553	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0187 a0009c0021t0001g0187	1	362	0.0028	18	c.-2+ others(33): Show c.-2+2135_-2+2152dupTTTTTTTTTTTTTTTTTT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	1/33			chr13	TogoVar
PARP8_chr5_50661637_50851519	50754116	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01257.hp1 HG01952.hp2 others(14): Show HG00438.hp2 HG01257.hp1 HG01952.hp2 HG02056.hp1 HG02080.hp2 HG02145.hp1 HG02257.hp1 HG02895.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03831.hp2 NA18942.hp2 NA18945.hp2 NA18974.hp2 NA18994.hp1 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0009	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0031 a0001c0002t0002 a0001c0003t0010 a0001c0003t0011 a0004c0009t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0267 others(14): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0267 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0006g0197 a0001c0001t0006g0203 a0001c0001t0006g0208 a0001c0001t0013g0195 a0001c0001t0014g0263 a0001c0001t0031g0004 a0001c0002t0002g0093 a0001c0002t0002g0153 a0001c0003t0010g0258 a0001c0003t0011g0226 a0004c0009t0001g0289	17	328	0.0518	18	c.184 others(35): Show c.184+3946_184+3963dupTATATATATATATATATA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARP8_chr5_50661637_50851519	50754148	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0210 a0001c0001t0006g0210	1	328	0.0031	18	c.184 others(35): Show c.184+3963_184+3964insTATATATATATATACATA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARP8_chr5_50661637_50851519	50754150	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0025 a0001c0004t0005g0025	1	328	0.0031	18	c.184 others(35): Show c.184+3963_184+3964insTATATATATACACACACA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARP8_chr5_50661637_50851519	50754150	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA21309.hp1 HG00544.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0035 a0001c0001t0008 a0001c0001t0035	a0001c0001t0008g0261 a0001c0001t0035g0301 a0001c0001t0008g0261 a0001c0001t0035g0301	2	328	0.0061	18	c.184 others(35): Show c.184+3963_184+3964insTATATATATATATATACA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARP8_chr5_50661637_50851519	50848999	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0256 a0001c0003t0001g0256	1	328	0.0031	18	c.69 others(29): Show c.6931_*6932insGTGTGTGTGTGTGTGTGT	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding		2481		chr5	TogoVar
PARP8_chr5_50661637_50851519	50849033	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18960.hp2 NA18948.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0307 a0001c0001t0001g0293 a0001c0001t0001g0307	2	328	0.0061	18	c.69 others(29): Show c.6965_*6966insGTGTGTGTGTGTGTGAGA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding		2515		chr5	TogoVar
PARP9_chr3_122522924_122569300	122539569	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02970.hp1 HG00140.hp2 HG02970.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0201 a0002c0001t0001g0312 a0002c0001t0001g0201 a0002c0001t0001g0312	2	436	0.0046	18	c.176 others(35): Show c.1765+902_1765+903insGAAAGAAAGAAAGAAAGA	PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	8/10			chr3	TogoVar
PARVA_chr11_12372571_12540356	12474738	C C	CTACTAAA others(11): Show CTACTAAAAATACAAAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0247 a0001c0001t0092g0247	1	286	0.0035	18	c.297 others(33): Show c.297+758_297+775dupCTAAAAATACAAAAAGTA	PARVA	ENSG00000197702.14	transcript	ENST00000334956.15	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PARVA_chr11_12372571_12540356	12477654	A A	AGGAAGAT others(11): Show AGGAAGATCACTTGAGCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG01175.hp1 others(18): Show HG00140.hp1 HG00408.hp1 HG01175.hp1 HG01192.hp1 HG01358.hp1 HG01496.hp1 HG02040.hp1 HG02129.hp2 HG02523.hp2 HG03239.hp2 HG03834.hp1 HG04228.hp2 NA18747.hp1 NA18946.hp1 NA18992.hp1 NA18992.hp2 NA19003.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0017 a0001c0001t0022 a0001c0001t0029 a0001c0001t0038 a0001c0001t0071 a0001c0001t0072 a0001c0001t0084	a0001c0001t0001g0001 a0001c0001t0001g0134 a0001c0001t0002g0023 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0134 a0001c0001t0002g0023 a0001c0001t0002g0040 a0001c0001t0002g0087 a0001c0001t0003g0137 a0001c0001t0003g0155 a0001c0001t0004g0105 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0006g0054 a0001c0001t0006g0144 a0001c0001t0011g0093 a0001c0001t0017g0156 a0001c0001t0017g0266 a0001c0001t0022g0065 a0001c0001t0029g0091 a0001c0001t0038g0109 a0001c0001t0071g0030 a0001c0001t0072g0099 a0001c0001t0084g0088	21	286	0.0734	18	c.298 others(33): Show c.298-192_298-175dupGGAAGATCACTTGAGCCC	PARVA	ENSG00000197702.14	transcript	ENST00000334956.15	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PARVB_chr22_44019302_44177939	44027914	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0067 a0001c0005t0067	a0001c0005t0067g0084 a0001c0005t0067g0084	1	332	0.0030	18	c.112 others(35): Show c.112+3472_112+3489dupATATATATATATATATAT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44066798	C C	CCTCCTCC others(11): Show CCTCCTCCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03540.hp1 HG01243.hp1 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0025 a0003c0033 a0001c0025 a0003c0033	a0001c0025t0015 a0003c0033t0002 a0001c0025t0015 a0003c0033t0002	a0001c0025t0015g0106 a0003c0033t0002g0195 a0001c0025t0015g0106 a0003c0033t0002g0195	2	332	0.0060	18	c.113 others(37): Show c.113-27113_113-27112insTCTCCTCCTCCTCCTCCT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44151029	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0182 a0010c0017t0001g0182	1	332	0.0030	18	c.775 others(33): Show c.775-443_775-426dupAAAAAAAAAAAAAAAAAA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151622586	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0186 a0001c0002t0004g0186	1	221	0.0045	18	c.419 others(33): Show c.419-336_419-319dupACACACACACACACACAC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	6/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151645904	T T	TTTGTTTT others(11): Show TTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00639.hp2 others(51): Show HG00280.hp1 HG00438.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01256.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01981.hp1 HG01993.hp2 HG02071.hp1 HG02145.hp1 HG02559.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp2 HG03704.hp1 HG03927.hp2 NA18747.hp1 NA18906.hp2 NA18945.hp1 NA18962.hp1 NA18965.hp1 NA18977.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19063.hp1 NA19086.hp1 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0024 a0002c0004 a0002c0007 a0002c0008 a0002c0009 a0002c0015 a0002c0023 a0005c0010	a0001c0001t0001 a0001c0001t0011 a0001c0001t0016 others(15): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0016 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0003t0003 a0001c0005t0012 a0001c0006t0008 a0001c0024t0001 a0002c0004t0003 a0002c0007t0001 a0002c0008t0002 a0002c0009t0003 a0002c0015t0001 a0002c0023t0002 a0005c0010t0002	a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0078 others(51): Show a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0128 a0001c0001t0001g0175 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0011g0187 a0001c0001t0016g0076 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0053 a0001c0002t0002g0155 a0001c0002t0002g0204 a0001c0002t0004g0044 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0209 a0001c0002t0005g0043 a0001c0002t0005g0221 a0001c0002t0007g0188 a0001c0002t0007g0206 a0001c0003t0003g0136 a0001c0005t0012g0159 a0001c0006t0008g0211 a0001c0024t0001g0051 a0002c0004t0003g0010 a0002c0004t0003g0019 a0002c0004t0003g0020 a0002c0004t0003g0021 a0002c0004t0003g0026 a0002c0004t0003g0092 a0002c0004t0003g0102 a0002c0004t0003g0120 a0002c0004t0003g0210 a0002c0007t0001g0085 a0002c0007t0001g0093 a0002c0007t0001g0095 a0002c0008t0002g0025 a0002c0008t0002g0050 a0002c0008t0002g0121 a0002c0009t0003g0052 a0002c0009t0003g0143 a0002c0015t0001g0066 a0002c0015t0001g0072 a0002c0023t0002g0194 a0005c0010t0002g0167	54	221	0.2443	18	c.630 others(35): Show c.630-2709_630-2708insGTTTTGTTTTGTTTTGTT	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	8/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653940	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0045 a0001c0002t0009g0045	1	221	0.0045	18	c.717 others(35): Show c.717+5239_717+5240insCTTTCTTTCTTTCTTTCT	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151677602	G G	GAAGCTTG others(11): Show GAAGCTTGCTGTGCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(185): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19076.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0001c0024 a0002c0004 a0002c0007 a0002c0008 a0002c0009 a0002c0015 a0002c0023 a0003c0012 a0003c0019 a0003c0021 a0005c0010 a0006c0014 a0007c0016 a0008c0020 a0009c0017 a0010c0018 a0011c0022	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 others(33): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0003t0003 a0001c0005t0002 a0001c0005t0012 a0001c0006t0004 a0001c0011t0003 a0001c0011t0014 a0001c0024t0001 a0002c0004t0003 a0002c0007t0001 a0002c0008t0002 a0002c0009t0003 a0002c0015t0001 a0002c0023t0002 a0003c0012t0002 a0003c0019t0001 a0003c0021t0003 a0005c0010t0002 a0006c0014t0003 a0007c0016t0001 a0008c0020t0002 a0009c0017t0002 a0010c0018t0001 a0011c0022t0003	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(185): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0011g0187 a0001c0001t0013g0109 a0001c0001t0015g0001 a0001c0001t0016g0076 a0001c0002t0001g0040 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0018 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0053 a0001c0002t0002g0068 a0001c0002t0002g0112 a0001c0002t0002g0119 a0001c0002t0002g0130 a0001c0002t0002g0151 a0001c0002t0002g0155 a0001c0002t0002g0163 a0001c0002t0002g0174 a0001c0002t0002g0179 a0001c0002t0002g0183 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0205 a0001c0002t0002g0213 a0001c0002t0002g0216 a0001c0002t0003g0150 a0001c0002t0003g0182 a0001c0002t0003g0203 a0001c0002t0004g0044 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0181 a0001c0002t0004g0184 a0001c0002t0004g0186 a0001c0002t0004g0209 a0001c0002t0005g0043 a0001c0002t0005g0221 a0001c0002t0006g0064 a0001c0002t0006g0069 a0001c0002t0006g0070 a0001c0002t0006g0110 a0001c0002t0006g0115 a0001c0002t0006g0122 a0001c0002t0007g0188 a0001c0002t0009g0045 a0001c0003t0003g0007 a0001c0003t0003g0030 a0001c0003t0003g0041 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0094 a0001c0003t0003g0107 a0001c0003t0003g0114 a0001c0003t0003g0118 a0001c0003t0003g0136 a0001c0003t0003g0156 a0001c0003t0003g0165 a0001c0003t0003g0214 a0001c0005t0002g0134 a0001c0005t0002g0154 a0001c0005t0012g0159 a0001c0006t0004g0193 a0001c0006t0004g0196 a0001c0011t0003g0011 a0001c0011t0014g0012 a0001c0024t0001g0051 a0002c0004t0003g0010 a0002c0004t0003g0019 a0002c0004t0003g0020 a0002c0004t0003g0021 a0002c0004t0003g0026 a0002c0004t0003g0092 a0002c0004t0003g0102 a0002c0004t0003g0120 a0002c0004t0003g0210 a0002c0007t0001g0085 a0002c0007t0001g0093 a0002c0007t0001g0095 a0002c0008t0002g0025 a0002c0008t0002g0050 a0002c0008t0002g0121 a0002c0009t0003g0006 a0002c0009t0003g0052 a0002c0009t0003g0143 a0002c0015t0001g0066 a0002c0015t0001g0072 a0002c0023t0002g0194 a0003c0012t0002g0008 a0003c0012t0002g0027 a0003c0019t0001g0218 a0003c0021t0003g0009 a0005c0010t0002g0167 a0005c0010t0002g0200 a0006c0014t0003g0023 a0006c0014t0003g0024 a0007c0016t0001g0124 a0008c0020t0002g0090 a0009c0017t0002g0062 a0010c0018t0001g0220 a0011c0022t0003g0162	188	221	0.8507	18	c.14 others(29): Show c.1459_*1460insAAGCTTGCTGTGCCCACC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		864		chrX	TogoVar
PASK_chr2_241101099_241154472	241120492	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0187 a0004c0004t0001g0187	1	376	0.0027	18	c.307 others(37): Show c.3072+2239_3072+2240insTTTTTTTTTTTTTTTTTT	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PASK_chr2_241101099_241154472	241132527	T T	TTAAAAAA others(11): Show TTAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0011 a0011	a0011c0063 a0011c0063	a0011c0063t0008 a0011c0063t0008	a0011c0063t0008g0044 a0011c0063t0008g0044	1	376	0.0027	18	c.146 others(35): Show c.1463+346_1463+347insTTTTTTTTTTTTTTTTTA	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	9/17			chr2	TogoVar
PATJ_chr1_61737480_62168915	61812433	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0015 a0005c0013t0015	a0005c0013t0015g0156 a0005c0013t0015g0156	1	158	0.0063	18	c.168 others(37): Show c.1683+3921_1683+3938dupTGTGTGTGTGTGTGTGTG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61814547	T T	TGTGTGCG others(11): Show TGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0043 a0043	a0043c0060 a0043c0060	a0043c0060t0001 a0043c0060t0001	a0043c0060t0001g0128 a0043c0060t0001g0128	1	158	0.0063	18	c.168 others(37): Show c.1683+6018_1683+6019insTGTGCGCGCGCGCGCGCG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61814547	T T	TGTGTGTG others(11): Show TGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0044 a0044	a0044c0028 a0044c0028	a0044c0028t0002 a0044c0028t0002	a0044c0028t0002g0118 a0044c0028t0002g0118	1	158	0.0063	18	c.168 others(37): Show c.1683+6018_1683+6019insTGTGTGCGCGCGCGCGCG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61886819	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0009 a0001c0048t0009	a0001c0048t0009g0080 a0001c0048t0009g0080	1	158	0.0063	18	c.313 others(37): Show c.3131+2423_3131+2424insAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	22/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61952253	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0021 a0021	a0021c0118 a0021c0118	a0021c0118t0003 a0021c0118t0003	a0021c0118t0003g0021 a0021c0118t0003g0021	1	158	0.0063	18	c.367 others(39): Show c.3670+24433_3670+24450dupGAGAGAGAGAGAGAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61965121	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0022 a0022	a0022c0018 a0022c0018	a0022c0018t0004 a0022c0018t0004	a0022c0018t0004g0054 a0022c0018t0004g0054	1	158	0.0063	18	c.367 others(39): Show c.3671-25024_3671-25007dupAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61997982	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp1 HG02622.hp2 HG03209.hp1	a0001 a0035 a0001 a0035	a0001c0001 a0035c0089 a0001c0001 a0035c0089	a0001c0001t0002 a0035c0089t0004 a0001c0001t0002 a0035c0089t0004	a0001c0001t0002g0076 a0035c0089t0004g0066 a0001c0001t0002g0076 a0035c0089t0004g0066	2	158	0.0127	18	c.386 others(37): Show c.3867+7619_3867+7620insTTATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62062392	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0040 a0040	a0040c0035 a0040c0035	a0040c0035t0022 a0040c0035t0022	a0040c0035t0022g0117 a0040c0035t0022g0117	1	158	0.0063	18	c.412 others(39): Show c.4125+11344_4125+11361dupTTTTTTTTTTTTTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	31/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62086228	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0054 a0054	a0054c0129 a0054c0129	a0054c0129t0002 a0054c0129t0002	a0054c0129t0002g0147 a0054c0129t0002g0147	1	158	0.0063	18	c.437 others(37): Show c.4377+1595_4377+1596insGTGTGTGTGTGTGTGTGT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106154	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0044 a0044	a0044c0028 a0044c0028	a0044c0028t0002 a0044c0028t0002	a0044c0028t0002g0118 a0044c0028t0002g0118	1	158	0.0063	18	c.437 others(37): Show c.4378-2282_4378-2281insATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106156	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03704.hp2 HG03486.hp1 HG03486.hp2 HG03704.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0022 a0003c0100 a0001c0001 a0001c0022 a0003c0100	a0001c0001t0002 a0001c0022t0029 a0003c0100t0003 a0001c0001t0002 a0001c0022t0029 a0003c0100t0003	a0001c0001t0002g0151 a0001c0022t0029g0111 a0003c0100t0003g0008 a0001c0001t0002g0151 a0001c0022t0029g0111 a0003c0100t0003g0008	3	158	0.0190	18	c.437 others(37): Show c.4378-2280_4378-2279insATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02622.hp2 HG01074.hp2 HG02622.hp2	a0028 a0035 a0028 a0035	a0028c0136 a0035c0089 a0028c0136 a0035c0089	a0028c0136t0013 a0035c0089t0004 a0028c0136t0013 a0035c0089t0004	a0028c0136t0013g0099 a0035c0089t0004g0066 a0028c0136t0013g0099 a0035c0089t0004g0066	2	158	0.0127	18	c.437 others(37): Show c.4378-2278_4378-2277insGTGTATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62143438	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19056.hp1 HG02040.hp1 NA19056.hp1	a0003 a0006 a0003 a0006	a0003c0009 a0006c0068 a0003c0009 a0006c0068	a0003c0009t0011 a0006c0068t0011 a0003c0009t0011 a0006c0068t0011	a0003c0009t0011g0038 a0006c0068t0011g0097 a0003c0009t0011g0038 a0006c0068t0011g0097	2	158	0.0127	18	c.527 others(37): Show c.5272-4833_5272-4816dupTTTTTTTTTTTTTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAWR_chr12_79579879_79695964	79613931	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0089 a0001c0003t0003g0089	1	256	0.0039	18	c.649 others(33): Show c.649-340_649-323dupTATATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79632296	C C	CATATATA others(11): Show CATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp2 HG03471.hp1 HG02615.hp2 HG02976.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0004g0018 a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0004g0018	3	256	0.0117	18	c.517 others(37): Show c.517-11090_517-11089insATATGTATATATATATAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79632326	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18992.hp1 NA19077.hp2 NA18987.hp1 NA18992.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0116	3	256	0.0117	18	c.517 others(37): Show c.517-11120_517-11119insGTATATATATATATATAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79638876	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	256	0.0039	18	c.517 others(37): Show c.517-17670_517-17669insCATATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79645036	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	256	0.0039	18	c.517 others(37): Show c.517-23847_517-23830dupTGTGTGTGTGTGTGTGTG	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX1_chr20_21700664_21723481	21713376	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0087 a0001c0001t0009g0087	1	400	0.0025	18	c.128 others(37): Show c.1283-1094_1283-1093insGTGTGTGTGTGTGTGTGT	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
PAX1_chr20_21700664_21723481	21721256	T T	TATATATG others(11): Show TATATATGTAATGTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02922.hp2 others(1): Show HG01884.hp1 HG02257.hp1 HG02922.hp2 HG03195.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0002c0003 a0002c0015 others(1): Show a0001c0008 a0002c0003 a0002c0015 a0003c0012	a0001c0008t0003 a0002c0003t0026 a0002c0015t0026 others(1): Show a0001c0008t0003 a0002c0003t0026 a0002c0015t0026 a0003c0012t0046	a0001c0008t0003g0090 a0002c0003t0026g0097 a0002c0015t0026g0098 others(1): Show a0001c0008t0003g0090 a0002c0003t0026g0097 a0002c0015t0026g0098 a0003c0012t0046g0037	4	400	0.0100	18	c.66 others(29): Show c.6694_*6695insATATATGTAATGTATATA	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		2776		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721495	A A	ATATATAT others(11): Show ATATATATGTAATGTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02922.hp2 others(1): Show HG01884.hp1 HG02257.hp1 HG02922.hp2 HG03195.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0002c0003 a0002c0015 others(1): Show a0001c0008 a0002c0003 a0002c0015 a0003c0012	a0001c0008t0003 a0002c0003t0026 a0002c0015t0026 others(1): Show a0001c0008t0003 a0002c0003t0026 a0002c0015t0026 a0003c0012t0046	a0001c0008t0003g0090 a0002c0003t0026g0097 a0002c0015t0026g0098 others(1): Show a0001c0008t0003g0090 a0002c0003t0026g0097 a0002c0015t0026g0098 a0003c0012t0046g0037	4	400	0.0100	18	c.69 others(29): Show c.6933_*6934insTATATATGTAATGTATAT	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3015		chr20	TogoVar
PAX2_chr10_100740582_100834944	100804271	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02647.hp2 NA18939.hp2 others(5): Show HG02015.hp1 HG02647.hp2 NA18939.hp2 NA18947.hp1 NA18959.hp1 NA18980.hp1 NA18983.hp1 NA19004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0007 a0001c0003t0003 a0001c0003t0007	a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0027 others(5): Show a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0027 a0001c0003t0003g0050 a0001c0003t0003g0058 a0001c0003t0003g0061 a0001c0003t0003g0074 a0001c0003t0007g0131	8	232	0.0345	18	c.617 others(35): Show c.617-2151_617-2134dupCACACACACACACACACA	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX3_chr2_222194887_222303998	222203012	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	328	0.0031	18	c.117 others(35): Show c.1174-840_1174-823dupATATATATATATATATAT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	7/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222282442	A A	AAAATTTA others(11): Show AAAATTTACAAATTAAAAG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	328	0.0031	18	c.586 others(37): Show c.586+11707_586+11724dupCTTTTAATTTGTAAATTT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX5_chr9_36828269_37039268	36848350	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp1 HG02735.hp2 others(5): Show HG00621.hp2 HG01074.hp1 HG02735.hp2 HG02738.hp2 HG03579.hp2 NA18990.hp2 NA19063.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0046 a0001c0002t0067 others(3): Show a0001c0001t0001 a0001c0001t0046 a0001c0002t0067 a0001c0002t0087 a0001c0004t0014 a0001c0009t0001	a0001c0001t0001g0116 a0001c0001t0046g0009 a0001c0002t0067g0043 others(5): Show a0001c0001t0001g0116 a0001c0001t0046g0009 a0001c0002t0067g0043 a0001c0002t0087g0202 a0001c0004t0014g0169 a0001c0004t0014g0173 a0001c0004t0014g0180 a0001c0009t0001g0141	8	274	0.0292	18	c.101 others(37): Show c.1013-1439_1013-1422dupTGTGTGTGTGTGTGTGTG	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	8/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36943529	T T	TTCACACA others(11): Show TTCACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	274	0.0037	18	c.781 others(37): Show c.781-20046_781-20045insGTGTGTGTGTGTGTGTGA	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	6/9			chr9	TogoVar

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