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
PARD3_chr10_34104561_34820296	34227852	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0057 a0001c0002t0003g0057	1	100	0.0100	24	c.341 others(45): Show c.3419+41804_3419+41805insTATATATATATATATATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34227854	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0011 a0006c0009t0011	a0006c0009t0011g0047 a0006c0009t0011g0047	1	100	0.0100	24	c.341 others(45): Show c.3419+41802_3419+41803insTATATATATATATATATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34227856	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG00544.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0019 a0001c0001t0001 a0001c0003t0019	a0001c0001t0001g0084 a0001c0003t0019g0089 a0001c0001t0001g0084 a0001c0003t0019g0089	2	100	0.0200	24	c.341 others(45): Show c.3419+41777_3419+41800dupTATATATATATATATATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34227881	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0050 a0003c0008t0003g0050	1	100	0.0100	24	c.341 others(45): Show c.3419+41775_3419+41776insGTATATATATATATATATATATAT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34666816	T T	TATATATA others(17): Show TATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0069 a0001c0002t0003g0069	1	100	0.0100	24	c.222 others(43): Show c.222+29501_222+29502insGTGTGTGTATATATATATATATAT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34666816	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0065 a0001c0015t0001g0065	1	100	0.0100	24	c.222 others(43): Show c.222+29501_222+29502insGTGTATATATATATATATATATAT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03041.hp1 HG03491.hp1 others(6): Show HG01074.hp2 HG03041.hp1 HG03491.hp1 HG03540.hp1 NA18906.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0002t0006 others(1): Show a0001c0001t0005 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009	a0001c0001t0005g0231 a0001c0001t0005g0241 a0001c0002t0001g0291 others(6): Show a0001c0001t0005g0231 a0001c0001t0005g0241 a0001c0002t0001g0291 a0001c0002t0001g0349 a0001c0002t0006g0078 a0001c0002t0006g0271 a0001c0002t0006g0316 a0001c0002t0006g0351 a0001c0002t0009g0322	9	382	0.0236	24	c.295 others(41): Show c.295+7138_295+7161dupATATATATATATATATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195572	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01891.hp2 HG02257.hp2 HG00738.hp1 HG01891.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0015 a0001c0002t0011 a0001c0002t0015	a0001c0002t0011g0010 a0001c0002t0015g0185 a0001c0002t0011g0010 a0001c0002t0015g0185	3	382	0.0079	24	c.295 others(41): Show c.295+7137_295+7138insGTATATATATATATATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARG_chr10_49813279_49947027	49927369	G G	GGAAAGAA others(17): Show GGAAAGAAGGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02300.hp2 HG02280.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0256 a0001c0001t0001g0189 a0001c0001t0001g0256	2	292	0.0069	24	c.145 others(43): Show c.1456-4701_1456-4700insTTTCTTTCTTTCTTTCCTTCTTTC	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	4/17			chr10	TogoVar
PARL_chr3_183824271_183889880	183882221	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	358	0.0028	24	c.125 others(41): Show c.125+2500_125+2501insAATATATATATATATATATATATA	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARM1_chr4_74928116_75055113	74964553	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0181 a0002c0002t0025g0181	1	192	0.0052	24	c.43+ others(41): Show c.43+31186_43+31209dupCACACACACACACACACACACACA	PARM1	ENSG00000169116.11	transcript	ENST00000307428.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp2 NA18979.hp2 HG00323.hp2 HG01081.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0022 a0001c0001t0002g0032 a0001c0001t0006g0120 a0001c0001t0001g0022 a0001c0001t0002g0032 a0001c0001t0006g0120	3	169	0.0178	24	c.148 others(45): Show c.1481-18632_1481-18609dupTTTTTTTTTTTTTTTTTTTTTTTT	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARN_chr16_14430701_14635260	14533421	C C	CGGAGAGG others(17): Show CGGAGAGGGAGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	169	0.0059	24	c.148 others(45): Show c.1480+18576_1480+18599dupCTCTCCCTCTCCCTCTCCCTCTCC	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP11_chr12_3803861_3878399	3810646	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp1 NA19079.hp1 NA18942.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0191 a0001c0001t0031g0198 a0001c0001t0031g0191 a0001c0001t0031g0198	2	416	0.0048	24	c.14 others(35): Show c.1453_*1476dupCTTCCTTCCTTCCTTCCTTCCTTC	PARP11	ENSG00000111224.14	transcript	ENST00000228820.9	protein_coding	8/8	1476		chr12	TogoVar
PARP12_chr7_140018749_140067951	140035842	G G	GGAGGAAG others(17): Show GGAGGAAGAGGAGGAGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp1 HG02280.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0185 a0001c0001t0003g0134 a0001c0001t0003g0185	2	360	0.0056	24	c.132 others(43): Show c.1325-1535_1325-1512dupTTCCCCCTCCTCCTCCTCTTCCTC	PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11			chr7	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0277 a0001c0003t0007g0277	1	366	0.0027	24	c.-33 others(35): Show c.-3319_-3318insAAAAAAAAATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP15_chr3_122572650_122644047	122593120	C C	CTATCTAT others(17): Show CTATCTATCTATCTATCTATCTATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG01081.hp1 others(35): Show HG00280.hp2 HG00438.hp2 HG01081.hp1 HG01109.hp2 HG01346.hp2 HG01978.hp2 HG02055.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp2 HG02717.hp2 HG02738.hp2 HG02970.hp1 HG03098.hp1 HG03471.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18954.hp1 NA18957.hp1 NA18969.hp1 NA18971.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA18995.hp1 NA19002.hp1 NA19010.hp1 NA19010.hp2 NA19067.hp1 NA19074.hp2 NA19084.hp1 NA19240.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0011 a0014 a0018 a0022 a0027	a0001c0001 a0002c0002 a0002c0014 others(11): Show a0001c0001 a0002c0002 a0002c0014 a0003c0003 a0003c0024 a0004c0004 a0005c0005 a0006c0006 a0008c0009 a0011c0011 a0014c0015 a0018c0025 a0022c0037 a0027c0026	a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 others(15): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 a0002c0002t0003 a0002c0014t0014 a0003c0003t0001 a0003c0024t0004 a0004c0004t0001 a0004c0004t0002 a0005c0005t0001 a0006c0006t0002 a0006c0006t0003 a0008c0009t0008 a0011c0011t0010 a0014c0015t0001 a0018c0025t0023 a0022c0037t0001 a0027c0026t0006	a0001c0001t0001g0121 a0001c0001t0005g0094 a0002c0002t0002g0234 others(35): Show a0001c0001t0001g0121 a0001c0001t0005g0094 a0002c0002t0002g0234 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0283 a0002c0002t0003g0209 a0002c0002t0003g0228 a0002c0002t0003g0229 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0284 a0002c0014t0014g0189 a0002c0014t0014g0194 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0221 a0003c0003t0001g0241 a0003c0003t0001g0243 a0003c0003t0001g0270 a0003c0024t0004g0212 a0004c0004t0001g0110 a0004c0004t0002g0093 a0005c0005t0001g0297 a0006c0006t0002g0291 a0006c0006t0002g0314 a0006c0006t0002g0349 a0006c0006t0003g0301 a0006c0006t0003g0303 a0008c0009t0008g0202 a0008c0009t0008g0206 a0011c0011t0010g0062 a0014c0015t0001g0324 a0018c0025t0023g0188 a0022c0037t0001g0109 a0027c0026t0006g0207	38	356	0.1067	24	c.187 others(43): Show c.187-12813_187-12812insCTATCTATCTATCTATCTATGTAT	PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP15_chr3_122572650_122644047	122601036	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	356	0.0028	24	c.187 others(41): Show c.187-4877_187-4876insTTTTTTTTTTTTTTTTTTTTTTTT	PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP16_chr15_65253099_65291883	65269172	G G	GTTTCTTT others(17): Show GTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	316	0.0032	24	c.312 others(41): Show c.312+1762_312+1763insGAAAGAAAGAAAGAAAGAAAGAAA	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	2/5			chr15	TogoVar
PARP16_chr15_65253099_65291883	65269176	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01993.hp1 NA18965.hp2 others(2): Show HG00423.hp1 HG01993.hp1 NA18965.hp2 NA18970.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0171 a0001c0001t0002g0219 a0001c0001t0002g0012 a0001c0001t0002g0171 a0001c0001t0002g0219	5	316	0.0158	24	c.312 others(41): Show c.312+1735_312+1758dupGAAAGAAAGAAAGAAAGAAAGAAA	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	2/5			chr15	TogoVar
PARP2_chr14_20338635_20362904	20347356	G G	GTGTATGT others(17): Show GTGTATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01361.hp2 HG01175.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0176 a0001c0001t0001g0177	2	420	0.0048	24	c.324 others(39): Show c.324+444_324+445insGTATGTATATATATATATATATAT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP4_chr13_24415931_24517778	24455480	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1 HG01496.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0076 a0002c0002t0001g0352 a0002c0002t0001g0066 a0002c0002t0001g0076 a0002c0002t0001g0352	3	362	0.0083	24	c.256 others(41): Show c.2563-292_2563-269dupATATATATATATATATATATATAT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24455506	T T	TATATATA others(17): Show TATATATATATATATATATATCACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00735.hp2 others(2): Show HG00323.hp1 HG00639.hp2 HG00735.hp2 HG02258.hp2 HG03195.hp2	a0006 a0008 a0026 a0006 a0008 a0026	a0006c0006 a0008c0013 a0026c0027 a0006c0006 a0008c0013 a0026c0027	a0006c0006t0001 a0008c0013t0001 a0026c0027t0001 a0006c0006t0001 a0008c0013t0001 a0026c0027t0001	a0006c0006t0001g0345 a0006c0006t0001g0346 a0006c0006t0001g0348 others(2): Show a0006c0006t0001g0345 a0006c0006t0001g0346 a0006c0006t0001g0348 a0008c0013t0001g0040 a0026c0027t0001g0013	5	362	0.0138	24	c.256 others(41): Show c.2563-295_2563-294insTGTGATATATATATATATATATAT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARP8_chr5_50661637_50851519	50754116	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18948.hp1 NA19006.hp1 others(3): Show HG03704.hp1 NA18948.hp1 NA19006.hp1 NA19010.hp1 NA19030.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0001t0001 a0001c0001t0012 a0001c0001t0013	a0001c0001t0001g0063 a0001c0001t0001g0292 a0001c0001t0001g0294 others(3): Show a0001c0001t0001g0063 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0307 a0001c0001t0012g0312 a0001c0001t0013g0207	6	328	0.0183	24	c.184 others(41): Show c.184+3940_184+3963dupTATATATATATATATATATATATA	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(17): Show TATATATATATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG03516.hp2 HG02622.hp2 HG02630.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0034 a0001c0001t0008 a0001c0001t0034	a0001c0001t0008g0317 a0001c0001t0008g0319 a0001c0001t0034g0260 a0001c0001t0008g0317 a0001c0001t0008g0319 a0001c0001t0034g0260	3	328	0.0092	24	c.184 others(41): Show c.184+3963_184+3964insTATATATATATATATACATATACA	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(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	328	0.0031	24	c.184 others(41): Show c.184+3963_184+3964insTATATATATATATATATATATACA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARP8_chr5_50661637_50851519	50788291	A A	ATGTATTA others(17): Show ATGTATTATGTATTATACAATATAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0039 a0001c0012t0039	a0001c0012t0039g0007 a0001c0012t0039g0007	1	328	0.0031	24	c.671 others(39): Show c.671-227_671-226insTATGTATTATACAATATAGTGTAT	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	9/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARVB_chr22_44019302_44177939	44066780	T T	TCTTCTCC others(17): Show TCTTCTCCTCCTCCTCCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(55): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01358.hp2 HG01891.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp1 HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18945.hp2 NA18960.hp2 NA18973.hp2 NA18977.hp2 NA18986.hp1 NA18998.hp1 NA19004.hp1 NA19010.hp1 NA19066.hp2 NA19067.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0012 a0002c0003 a0002c0031 a0004c0009 a0008c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0061 a0001c0001t0076 a0001c0002t0001 a0001c0002t0009 a0001c0002t0012 a0001c0002t0023 a0001c0002t0025 a0001c0002t0084 a0001c0005t0003 a0001c0005t0010 a0001c0007t0069 a0001c0012t0082 a0002c0003t0001 a0002c0003t0003 a0002c0003t0012 a0002c0003t0017 a0002c0003t0079 a0002c0031t0002 a0004c0009t0001 a0008c0022t0072	a0001c0001t0001g0004 a0001c0001t0001g0048 a0001c0001t0001g0069 others(55): Show a0001c0001t0001g0004 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0167 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0282 a0001c0001t0002g0015 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0068 a0001c0001t0002g0206 a0001c0001t0002g0228 a0001c0001t0002g0256 a0001c0001t0003g0043 a0001c0001t0004g0022 a0001c0001t0004g0208 a0001c0001t0004g0236 a0001c0001t0004g0241 a0001c0001t0004g0243 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0297 a0001c0001t0005g0257 a0001c0001t0006g0203 a0001c0001t0007g0254 a0001c0001t0008g0017 a0001c0001t0008g0045 a0001c0001t0008g0235 a0001c0001t0011g0288 a0001c0001t0012g0037 a0001c0001t0017g0237 a0001c0001t0061g0033 a0001c0001t0076g0261 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0009g0191 a0001c0002t0012g0116 a0001c0002t0023g0202 a0001c0002t0025g0100 a0001c0002t0025g0128 a0001c0002t0084g0073 a0001c0005t0003g0133 a0001c0005t0010g0072 a0001c0007t0069g0094 a0001c0012t0082g0129 a0002c0003t0001g0047 a0002c0003t0001g0240 a0002c0003t0003g0038 a0002c0003t0012g0040 a0002c0003t0012g0284 a0002c0003t0017g0242 a0002c0003t0079g0044 a0002c0031t0002g0036 a0004c0009t0001g0258 a0008c0022t0072g0130	58	332	0.1747	24	c.113 others(43): Show c.113-27146_113-27145insTCTCCTCCTCCTCCTTCTCCTCCT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44066801	C C	CCTCCTCC others(17): Show CCTCCTCCTCCTCCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0041 a0002c0003t0012g0041	1	332	0.0030	24	c.113 others(43): Show c.113-27106_113-27105insCTTCTCCTCCTCCTCCTCCTCCTC	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44131035	T T	TCCTCCCT others(17): Show TCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02683.hp1 HG02818.hp1 others(2): Show HG01168.hp2 HG02683.hp1 HG02818.hp1 HG03490.hp2 HG03704.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0010	a0001c0002 a0002c0003 a0003c0006 others(2): Show a0001c0002 a0002c0003 a0003c0006 a0006c0032 a0010c0035	a0001c0002t0056 a0002c0003t0001 a0003c0006t0054 others(2): Show a0001c0002t0056 a0002c0003t0001 a0003c0006t0054 a0006c0032t0070 a0010c0035t0003	a0001c0002t0056g0019 a0002c0003t0001g0240 a0003c0006t0054g0113 others(2): Show a0001c0002t0056g0019 a0002c0003t0001g0240 a0003c0006t0054g0113 a0006c0032t0070g0162 a0010c0035t0003g0029	5	332	0.0151	24	c.377 others(39): Show c.377-443_377-420dupCCTCCCTCCCTCCCTCCCTCCCTC	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151647137	G G	GGTCTACA others(17): Show GGTCTACAGCTTGGGAAGAGGTCTT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0109 a0001c0001t0013g0109	1	221	0.0045	24	c.630 others(41): Show c.630-1476_630-1453dupTCTACAGCTTGGGAAGAGGTCTTG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	8/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653832	T T	TTCCCTCC others(17): Show TTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0044 a0001c0002t0004g0044	1	221	0.0045	24	c.717 others(41): Show c.717+5133_717+5134insCTCCCTCCCTCCCTCCCTCCCTCC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(17): Show CTCCCTCCCTCCCTCCCTCCCTCTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	221	0.0045	24	c.717 others(41): Show c.717+5168_717+5169insCCTCCCTCCCTCCCTCCCTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(17): Show CTCCCTCCCTCCCTCCCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG04199.hp1 NA18944.hp1 others(2): Show HG00558.hp2 HG04199.hp1 NA18944.hp1 NA19007.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0108 a0001c0005t0002g0154	5	221	0.0226	24	c.717 others(41): Show c.717+5168_717+5169insCCTCCCTCCCTCCCTCTTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(17): Show CTCCCTCCCTCCCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19057.hp2 NA19070.hp1 HG02083.hp1 NA19057.hp2 NA19070.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0001 a0006c0014t0003 a0001c0001t0001 a0006c0014t0003	a0001c0001t0001g0046 a0001c0001t0001g0106 a0006c0014t0003g0024 a0001c0001t0001g0046 a0001c0001t0001g0106 a0006c0014t0003g0024	3	221	0.0136	24	c.717 others(41): Show c.717+5168_717+5169insCCTCCCTCCCTCTTTCTTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCT others(17): Show CTCCCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	221	0.0045	24	c.717 others(41): Show c.717+5168_717+5169insCCTCTTTCTTTCTTTCTTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02922.hp2 HG02886.hp2 HG02922.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0013 a0001c0002 a0004c0013	a0001c0002t0002 a0004c0013t0010 a0001c0002t0002 a0004c0013t0010	a0001c0002t0002g0033 a0004c0013t0010g0132 a0001c0002t0002g0033 a0004c0013t0010g0132	2	221	0.0091	24	c.717 others(41): Show c.717+5216_717+5239dupCTTTCTTTCTTTCTTTCTTTCTTT	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PATJ_chr1_61737480_62168915	61886819	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0002 a0011c0007t0002	a0011c0007t0002g0036 a0011c0007t0002g0036	1	158	0.0063	24	c.313 others(43): Show c.3131+2423_3131+2424insAAAAAAAAAAAAAAAAAAAAAAAA	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(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0152 a0004c0011t0001g0152	1	158	0.0063	24	c.367 others(45): Show c.3670+24427_3670+24450dupGAGAGAGAGAGAGAGAGAGAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62036871	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03492.hp2 HG03516.hp2 HG02258.hp1 HG03492.hp2 HG03516.hp2	a0001 a0009 a0001 a0009	a0001c0088 a0009c0051 a0009c0096 a0001c0088 a0009c0051 a0009c0096	a0001c0088t0010 a0009c0051t0003 a0009c0096t0003 a0001c0088t0010 a0009c0051t0003 a0009c0096t0003	a0001c0088t0010g0016 a0009c0051t0003g0092 a0009c0096t0003g0010 a0001c0088t0010g0016 a0009c0051t0003g0092 a0009c0096t0003g0010	3	158	0.0190	24	c.396 others(43): Show c.3960-1096_3960-1095insAAAAAAAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03453.hp2 HG03492.hp2 others(1): Show HG01123.hp1 HG03453.hp2 HG03492.hp2 HG04204.hp1	a0001 a0009 a0033 others(1): Show a0001 a0009 a0033 a0057	a0001c0024 a0009c0051 a0033c0132 others(1): Show a0001c0024 a0009c0051 a0033c0132 a0057c0080	a0001c0024t0001 a0009c0051t0003 a0033c0132t0003 others(1): Show a0001c0024t0001 a0009c0051t0003 a0033c0132t0003 a0057c0080t0003	a0001c0024t0001g0139 a0009c0051t0003g0092 a0033c0132t0003g0027 others(1): Show a0001c0024t0001g0139 a0009c0051t0003g0092 a0033c0132t0003g0027 a0057c0080t0003g0032	4	158	0.0253	24	c.437 others(43): Show c.4378-2273_4378-2250dupATATATATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0021 a0021	a0021c0033 a0021c0033	a0021c0033t0006 a0021c0033t0006	a0021c0033t0006g0120 a0021c0033t0006g0120	1	158	0.0063	24	c.437 others(43): Show c.4378-2278_4378-2277insGTATATATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0015 a0003c0003t0017g0015	1	158	0.0063	24	c.437 others(43): Show c.4378-2278_4378-2277insGTGTGTGTATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATL1_chr11_59631716_59674037	59632605	C C	CTATATAT others(17): Show CTATATATATCTATATATATATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0039 a0001c0002t0005g0039	1	276	0.0036	24	c.57 others(35): Show c.5784_*5785insTAGATATATATATAGATATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		4110		chr11	TogoVar
PATL1_chr11_59631716_59674037	59632661	A A	ATATATAT others(17): Show ATATATATATATATCTATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG03492.hp1 HG03688.hp2 HG02698.hp2 HG03492.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078	3	276	0.0109	24	c.57 others(35): Show c.5728_*5729insGATATATATAGATATATATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		4054		chr11	TogoVar
PATL1_chr11_59631716_59674037	59652064	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	276	0.0036	24	c.142 others(41): Show c.1426+376_1426+399dupTTTTTTTTTTTTTTTTTTTTTTTT	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	11/18			chr11	TogoVar
PATL2_chr15_44660732_44716323	44676370	A A	AATAACTT others(17): Show AATAACTTCCAGTGACTCTGGACAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0030 a0002c0002t0004g0030	1	262	0.0038	24	c.16+ others(36): Show c.16+81_16+104dupATGTCCAGAGTCACTGGAAGTTAT	PATL2	ENSG00000229474.8	transcript	ENST00000682850.1	protein_coding	4/17			chr15	TogoVar
PAWR_chr12_79579879_79695964	79626162	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0034 a0005c0007t0034	a0005c0007t0034g0255 a0005c0007t0034g0255	1	256	0.0039	24	c.517 others(41): Show c.517-4956_517-4955insTTTTTTTTTTTTTTTTTTTTTTTT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79638863	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	256	0.0039	24	c.517 others(43): Show c.517-17680_517-17657dupATATATATATATATATATATATAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX3_chr2_222194887_222303998	222203012	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	328	0.0031	24	c.117 others(41): Show c.1174-846_1174-823dupATATATATATATATATATATATAT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	7/8			chr2	TogoVar

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