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
NT5DC1_chr6_116095853_116254497	116116343	T T	TAAAAATA others(347): Show TAAAAATAACTACTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02647.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0121 a0001c0001t0024g0122 a0001c0001t0001g0121 a0001c0001t0024g0122	2	300	0.0067	354	c.444 others(369): Show c.444+591_444+592insCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAATAACTACTTTTGG	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NTN5_chr19_48656407_48678017	48669204	C C	CCACCATC others(347): Show CCACCATCACCATCACCACCACCACGACCATCATCACCACCACCACCATC ACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCATCATCACCA CCATCACCACCACCATCATCACCATCACCACCACCAACACCACCACCATC ACCATCATCACCACCATCACCACCACCATCATCACCATCACCACCATCAC CACCACCACCACCATCACCATCACCACCACCATCACCACCACCATCACCA CCATCACCATCACCACCACCACCATCACCATCATCACCACCATCACCACC ACCAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	412	0.0024	354	c.631 others(371): Show c.631+1151_631+1152insATGGTGGTGGTGATGGTGGTGATGATGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGATGGTG GTGGTGATGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGAT GGTGGTGGTGATGGTGGTGATGATGGTGATGGTGGTGGTGTTGGTGGTGG TGATGGTGATGATGGTGGTGGTGATGGTGGTGATGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGATGG TCGTGGTGGTGGTGATGGTGATGGTG	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NXN_chr17_794310_984776	949109	G G	GCCTCCTC others(347): Show GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTG CCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTC CCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTG CCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC CCCCT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	242	0.0041	354	c.360 others(373): Show c.360+30209_360+30210insAGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGGGGGGA GAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCACGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRM1_chr6_154034240_154137356	154100188	C C	CATATATC others(347): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATATTATCATATTATGACATATATC ATAATATATATTATCATATTATGACATATATCATAATATATATTATCATA TTATGACATATATCATAATATATATTATCATATTATGACATATATCATAA TATATATTATCATATTATGACATATATCATAATATATATTATCATATTAT GACAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0072 a0001c0001t0066g0072	1	268	0.0037	354	c.116 others(373): Show c.1164+8720_1164+8721insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATATTA TCATATTATGACATATATCATAATATATATTATCATATTATGACATATAT CATAATATATATTATCATATTATGACATATATCATAATATATATTATCAT ATTATGACATATATCATAATATATATTATCATATTATGACATATATCATA ATATATATTATCATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(347): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATATTATCATATTATGACATATATC ATAATATATATTATCATATTATGACATATATCATAATATATATTATCATA TTATGACATATATCATAATATATATTATCATATTATGACATATATCATAA TATATATTATCATATTATGACATATATCATAATATATATTATCATATTAT GACAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18977.hp2 HG03927.hp2 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0104 a0001c0001t0001 a0002c0002t0104	a0001c0001t0001g0093 a0002c0002t0104g0232 a0001c0001t0001g0093 a0002c0002t0104g0232	2	268	0.0075	354	c.116 others(373): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATATTA TCATATTATGACATATATCATAATATATATTATCATATTATGACATATAT CATAATATATATTATCATATTATGACATATATCATAATATATATTATCAT ATTATGACATATATCATAATATATATTATCATATTATGACATATATCATA ATATATATTATCATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OR2A14_chr7_144118176_144136188	144123111	G G	GTTCAGGA others(347): Show GTTCAGGAGAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0020 a0008c0009t0020	a0008c0009t0020g0041 a0008c0009t0020g0041	1	426	0.0024	354	c.-18 others(363): Show c.-188_-187insTTCAGGAGAGCGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTAC TGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAT	OR2A14	ENSG00000221938.5	transcript	ENST00000641068.1	protein_coding		64		chr7	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(347): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCC GGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	438	0.0023	354	c.-29 others(369): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAATAATA ATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637460	C C	CGCCTCTG others(347): Show CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGTCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGG GGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0238	1	362	0.0028	354	c.-27 others(371): Show c.-27-2623_-27-2622insACCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCA CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCC CTCCCCCCTCCCGGACGGGACGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGC	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
PARP10_chr8_143972158_143991460	143981746	A A	ATGGTGAT others(347): Show ATGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGG TGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAA GGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTG ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG00735.hp1 others(19): Show HG00408.hp1 HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01496.hp2 HG01891.hp2 HG02602.hp1 HG02602.hp2 HG03490.hp1 HG03492.hp2 HG04184.hp1 HG04204.hp1 NA18962.hp2 NA18982.hp2 NA19000.hp1 NA19004.hp1 NA19067.hp1 NA19074.hp2 NA19080.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007	a0002c0002t0002g0011 a0002c0002t0002g0029 a0002c0002t0002g0033 others(16): Show a0002c0002t0002g0011 a0002c0002t0002g0029 a0002c0002t0002g0033 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0265 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0290 a0002c0002t0004g0268 a0002c0002t0007g0273	22	380	0.0579	354	c.255 others(373): Show c.2556+1185_2556+1186insCCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATC ACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCT TCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCA CTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCAC CACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACC ACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCA CCACTCACTGTCGTCACCACCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PCBP3_chr21_45638725_45947450	45896653	G G	GGAGATGC others(347): Show GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GCCGCGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATT GTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCC CGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGA TGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAG AACCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG00735.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0024 a0001c0001t0008g0025	2	292	0.0069	354	c.165 others(369): Show c.165+314_165+315insTCTCTGTAGGAAAGGCAGACATGGCACATA GAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCG CGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAA AGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGATGCA CTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACC AGAGATGCACTGCCCGGGCCATTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDIA2_chr16_278164_292215	285943	C C	CCCCAACC others(347): Show CCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCG CGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCG GTTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02976.hp2 HG01109.hp2 HG02976.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0027 a0006c0014t0002g0027	2	436	0.0046	354	c.111 others(371): Show c.1119+255_1119+256insAACCCCGCGGTTCTCCCAACCCCAACCC CGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAA CCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCC AACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(347): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGGAAGAGGGGAGGGGAGGAGATGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGG GGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0006 a0001c0002t0004g0006	1	312	0.0032	354	c.53 others(365): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGGAAGAGGGGA GGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGG GGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGA AGAGGGGATGGGAGGGGAAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(347): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGGAAGAGGGGAA GGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAG GGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	354	c.53 others(365): Show c.5377_*5378insGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG GGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGG AAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(347): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAA GGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAG GGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	312	0.0032	354	c.53 others(365): Show c.5377_*5378insGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGG AAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(347): Show GGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAG GAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAA GGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAG GGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	312	0.0032	354	c.53 others(365): Show c.5377_*5378insGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA TAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGG AAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIP4K2A_chr10_22529854_22719578	22578645	T T	TTTGTTTA others(347): Show TTTGTTTACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTGCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0183 a0002c0003t0003g0183	1	206	0.0049	354	c.493 others(371): Show c.493-5189_493-5188insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGCAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAATGTAAACAA	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	4/9			chr10	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGG others(347): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGGAAGAGGGGAA GGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAG GGGAA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	218	0.0046	354	c.262 others(369): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCCTTCCCCT CTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCC TCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTC CCCTCCCTTCCCCTCTTCCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGG others(347): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAA GGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAG GGGAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0209 a0001c0001t0004g0209	1	218	0.0046	354	c.262 others(369): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCC TCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTC CCCTCCCTTCCCCTCTTCCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGG others(347): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAA GGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAG GGGAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	218	0.0046	354	c.262 others(369): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCCTCCCCTCCCTTCCCCTCTTCCCCC TCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTC CCCTCCCTTCCCCTCTTCCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455730	G G	GGAAGAGG others(347): Show GGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAA GAGGGAAGAGGGGGAGGGGAGGGGGAAGAGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGGAAG AGGGGAAGGGAGGGGGAGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAG AGGAGGGGAGGGGAGAGGAGGGAAGGGGGAGAGGGGATGGGAGGGGAAGA GGGGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0203 a0001c0003t0001g0203	1	218	0.0046	354	c.262 others(369): Show c.2620-88_2620-87insTCCCCTCTTCCCCTCCCATCCCCTCTCCCC CTTCCCTCCTCTCCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTT CCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCC CCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCC TCTTCCCCTCCCCCTCCCTTCCCCTCTTCCCCCTCCCCCTCCCTTCCCCT CTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCTCTT CCCCCTCCCCTCCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTC CCCCTCCCCTCCCTTCCCCTCTTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKD1L1_chr7_47769614_47953466	47793047	T T	TAAAAAAA others(347): Show TAAAAAAAAAACTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAA AACAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01928.hp1 NA18962.hp1 others(5): Show HG00735.hp2 HG01928.hp1 NA18962.hp1 NA18962.hp2 NA18981.hp2 NA18994.hp2 NA19065.hp2 NA19077.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0042	a0001c0013 a0004c0012 a0004c0056 others(3): Show a0001c0013 a0004c0012 a0004c0056 a0005c0009 a0008c0010 a0042c0140	a0001c0013t0001 a0004c0012t0001 a0004c0056t0001 others(3): Show a0001c0013t0001 a0004c0012t0001 a0004c0056t0001 a0005c0009t0001 a0008c0010t0001 a0042c0140t0001	a0001c0013t0001g0116 a0004c0012t0001g0249 a0004c0012t0001g0293 others(5): Show a0001c0013t0001g0116 a0004c0012t0001g0249 a0004c0012t0001g0293 a0004c0056t0001g0087 a0005c0009t0001g0124 a0005c0009t0001g0137 a0008c0010t0001g0053 a0042c0140t0001g0172	8	306	0.0261	354	c.835 others(371): Show c.8356-251_8356-250insTTGTTTTGTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCAATAGTTTTTTTTTT	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	55/56			chr7	TogoVar
PKP3_chr11_389209_409908	401566	G G	GCCCCGCT others(347): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTC ACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCA CACCC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19087.hp2 NA20905.hp1 NA19065.hp2 NA19087.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0146 a0001c0002t0001g0173 a0001c0002t0001g0135 a0001c0002t0001g0146 a0001c0002t0001g0173	3	216	0.0139	354	c.173 others(371): Show c.1737+861_1737+862insCCCCGCTCACCCCCGGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCGGCCC CGCTCACACCCGCCCCGCTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(347): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGA GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCG GCCAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18944.hp2 HG03579.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0139 a0001c0001t0003g0014 a0001c0001t0001g0139 a0001c0001t0003g0014	2	294	0.0068	354	c.550 others(371): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA CAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
POLG_chr15_89311320_89339824	89325207	A A	AGAGAGTG others(347): Show AGAGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAG TGAGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	398	0.0025	354	c.194 others(371): Show c.1949+242_1949+243insACTCACTCTCTCACTCACTCACTCACTC ACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCAC TCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCTCTCACTC ACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTC TCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTC ACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCAC TCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTC TCTCACTCTCTCACTCACTCACTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP6R2_chr22_50338327_50450090	50397569	C C	CTGTCATC others(347): Show CTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGG GGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGC ATGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCT CTGAGCTTTTCTCTGAGGAGCATGACTTGGGATGGGGGCAGGGGGGCCTG TCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTG GGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACC AGCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0038 a0001c0002t0003g0038	1	340	0.0029	354	c.227 others(371): Show c.227+3447_227+3448insCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTC TGAGGAGCATGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCC TGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGATGGGGGCAGG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCT CTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTG TCCTCACCAGCCTTGTCATCTCTGAG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397973	A A	AGGGGGGC others(347): Show AGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCAC CAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0190 a0001c0003t0002g0190	1	340	0.0029	354	c.227 others(371): Show c.227+3869_227+3870insCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTC ATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GCCTGTCCTCACCAGCCCTGTCATCT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2121862	C C	CACGGTGG others(347): Show CACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGTTAGAGTCATGGCGGTA GTTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTACTTAAGGTCA TGGTGGTAGTTAGGGTTATGGTAGTTAGGGTCATGGCAGTAGTTAGGGTT ATATCAGTAGTTAGGGCTATGGCTGTAGTTAGGGTGACAGTGGTAGTTAA GGTCACAGCAGTAATTAGGGTCATGGTGGTGGTTAGGGTCGTGGTGGTAG TTATTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGG TCATG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	286	0.0035	354	c.335 others(373): Show c.335-13400_335-13399insACGGTGGTAGTTAGGGTCATGGTGGT AGTTAGTTAGAGTCATGGCGGTAGTTAGTTAGGGTCACGGTGGTAGTTAG GGTCATGGTGGTACTTAAGGTCATGGTGGTAGTTAGGGTTATGGTAGTTA GGGTCATGGCAGTAGTTAGGGTTATATCAGTAGTTAGGGCTATGGCTGTA GTTAGGGTGACAGTGGTAGTTAAGGTCACAGCAGTAATTAGGGTCATGGT GGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTAGTTAGG GTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKN_chr6_161342417_162732766	162592819	T T	TACTTGGC others(347): Show TACTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCCGGCTAA ACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATA TATAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	32	0.0313	354	c.7+1 others(371): Show c.7+134842_7+134843insGTATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGATGGGGTTTCACCGTTTAGCCGGGATGGTCTCGATCTC CTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAAGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKX_chrX_3599340_3718649	3639300	G G	GGGGGGTG others(347): Show GGGGGGTGGATGGATGAAGGGTGGGTGGATGGATGATTGAATGAAGGGGT GGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTAGAG GGGTGGGGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGTGGATGGAT GAAGGGGTGGGGTGGTAGATGGATGAAGGGGTAGAGGGGTGGGGGGGTGG GTGCATGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTG GTAGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGTG GATGGATGAAGGGGTAGAGGGGTGGGGGGGTGGGTGCATGGATGGATGAA GGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0025 a0001c0007t0025	a0001c0007t0025g0044 a0001c0007t0025g0044	1	227	0.0044	354	c.719 others(371): Show c.719+2551_719+2552insACCCCTTCATCCATCCATGCACCCACCC CCCCACCCCTCTACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCC ACCCCCCCCACCCCTTCATCCATCTACCACCCCACCCCTTCATCCATCCA CCCCCACCCCTTCATCCATCCATGCACCCACCCCCCCACCCCTCTACCCC TTCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCA TCCATCCATGCACCCACCCCCCCACCCCTCTACCCCTTCATCCATCTACC ACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATTCAATCATCCATC CACCCACCCTTCATCCATCCACCCCC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PSD3_chr8_18522303_19018703	18759952	T T	TAGAAATG others(347): Show TAGAAATGCAGAGCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGATTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0191 a0001c0002t0020g0191	1	228	0.0044	354	c.217 others(373): Show c.2172+5496_2172+5497insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAATCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTGCTCTGCATTTCT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PTPN9_chr15_75458251_75584315	75481624	C C	CCCACCCG others(347): Show CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCT CCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CAGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCG GGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	326	0.0031	354	c.106 others(373): Show c.1063-1711_1063-1710insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCC CTCCCGGACGGGGCGGCTGGCCGGGTGG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481624	C C	CCCACCCG others(347): Show CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTC CGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC AGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19000.hp1 HG01261.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0145 a0001c0001t0019g0041 a0001c0001t0001g0145 a0001c0001t0019g0041	2	326	0.0061	354	c.106 others(373): Show c.1063-1711_1063-1710insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCC CTCCCGGACGGGGCGGCTGGCCGGGTGG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
RAI14_chr5_34651328_34837612	34717925	T T	TCCAACCC others(347): Show TCCAACCCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGGAGGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACCGGCGCCC GCCACTACGCCCGGCTAGTTTTTTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18906.hp2 HG01361.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0101 a0001c0001t0001g0079 a0001c0001t0001g0101	2	254	0.0079	354	c.36+ others(371): Show c.36+30984_36+30985insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGGAGGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACC GGCGCCCGCCACTACGCCCGGCTAGTTTTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCCCAACCCTGCTCTT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBM33_chr7_155639661_155786480	155673687	T T	TACACGCA others(347): Show TACACGCATATACATACACACGTGTATATATATACACGCATATACATACA CACGTGTATATATATACACGCATATACATACACACGTGTATATATATACA CGCATATACATACACACGTGTATATATATACACGCATATACATACACACG TGTATATATATACACGCATATACATACACACGTGTATATATATACACGCA TATACATACACACGTGTATATATATACACGCATATACATACACACGTGTA TATATATACACGCATATACATACACACGTGTATATATATACACGCATATA CATACACACGTGTATATATATACACGCATATACATACACACGTGTATATA TATAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0099 a0001c0003t0099	a0001c0003t0099g0084 a0001c0003t0099g0084	1	306	0.0033	354	c.171 others(369): Show c.171+776_171+777insGCATATACATACACACGTGTATATATATAC ACGCATATACATACACACGTGTATATATATACACGCATATACATACACAC GTGTATATATATACACGCATATACATACACACGTGTATATATATACACGC ATATACATACACACGTGTATATATATACACGCATATACATACACACGTGT ATATATATACACGCATATACATACACACGTGTATATATATACACGCATAT ACATACACACGTGTATATATATACACGCATATACATACACACGTGTATAT ATATACACGCATATACATACACACGTGTATATATATACACGCATATACAT ACACACGTGTATATATATACACAC	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM47_chr4_40418280_40634864	40526417	T T	TAAAAAAT others(347): Show TAAAAAATGGTTGGGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATCAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0029	a0001c0004t0029g0223 a0001c0004t0029g0223	1	278	0.0036	354	c.-15 others(375): Show c.-155+18004_-155+18005insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCCCGGCTGATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCCAGACCCAACCATTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6			chr4	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(347): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGG GGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGA GGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGG GAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGG GGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGG GAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	318	0.0031	354	c.36 others(365): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RERE_chr1_8347404_8822640	8441930	T T	TCAATACA others(347): Show TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	204	0.0049	354	c.120 others(375): Show c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGTGTGTGTATTG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	11/22			chr1	TogoVar
RHOB_chr2_20442074_20454440	20451491	T T	TAAGAATT others(347): Show TAAGAATTTGAATTTGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	368	0.0027	354	c.34 others(365): Show c.3435_*3436insAAGAATTTGAATTTGTAGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		2052		chr2	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(347): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA19082.hp2 HG01361.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0045 a0002c0002t0001g0073 a0001c0001t0001g0045 a0002c0002t0001g0073	2	280	0.0071	354	c.3+2 others(369): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	ATATATAT others(347): Show ATATATATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATAT ATGAATATACATATTTTAATATATATAATTTAATATATATCTTTAAATAT ATATAAATATATATTTAAATATATATATTTAAATATATATTAATATATAT ATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATTCATAT ATATTTAAATTATATAATTTAAATATACATATTTAAAAATATATATATTT AAATATATATATTTTTAATATATATATTTTTAAATATATATATTTATATA TATATTTTTATATATATATATTTATATATATATTTTTAAATATATATATA TATTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0127 a0001c0003t0001g0127	1	408	0.0025	354	c.182 others(371): Show c.182-2718_182-2717insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATGAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATAAATATATATTTAAATATATATATT TAAATATATATTAATATATATATTTAAAGATATATATTAAATTATATATA TTAAAATATGTATATTCATATATATTTAAATTATATAATTTAAATATACA TATTTAAAAATATATATATTTAAATATATATATTTTTAATATATATATTT TTAAATATATATATTTATATATATATTTTTATATATATATATTTATATAT ATATTTTTAAATATATATATATATTT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RPGRIP1L_chr16_53593153_53708859	53700869	T T	TGAAAGCT others(347): Show TGAAAGCTTCTATTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0087 a0001c0007t0001g0087	1	364	0.0028	354	c.-7- others(367): Show c.-7-140_-7-139insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAATAGAATAGAAGCTTTC	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	1/26			chr16	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(347): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCT CCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCTTCTTTCTCACT CCTTCCCCCCTCCCTCCCTCCTTCCCCTTCCCTCCTGCTTTCCCCCTCCC TCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT CCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCT CCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	232	0.0043	354	c.77 others(365): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCT TCCTTCTTTCTCACTCCTTCCCCCCTCCCTCCCTCCTTCCCCTTCCCTCC TGCTTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCC TTCCTTCCCTCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCC TTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCC TCCCTTCCCCCTCCTCCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
SCN7A_chr2_166398573_166499249	166490600	T T	TAAAAAAG others(347): Show TAAAAAAGGAGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	394	0.0025	354	c.-12 others(373): Show c.-128+3367_-128+3368insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGCCTCCTTTTTT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	1/25			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288943	C C	CCCCGTGT others(347): Show CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGT CCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	290	0.0035	354	c.166 others(371): Show c.1662+910_1662+911insTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC CCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCCCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(347): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	370	0.0027	354	c.-30 others(373): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTC CCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC CCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SESN1_chr6_108979309_109099846	109047184	C C	CCACCCGG others(347): Show CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGGCCAGCCACCCCGTCC GGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCT GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCAGCCCTCCACCCGGCCAGCCGCCCCATCTGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03225.hp2 HG03540.hp1 others(2): Show HG02572.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0002 a0001c0003t0004g0003 a0001c0003t0004g0004 others(2): Show a0001c0003t0004g0002 a0001c0003t0004g0003 a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0004g0006	5	184	0.0272	354	c.280 others(373): Show c.280-44842_280-44841insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGATGGGGCGGCTGGCCGG GTGGAGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCAGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGT GGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCAGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGTG	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SIGIRR_chr11_400716_419999	401566	G G	GCCCCGCT others(347): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTC ACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCA CACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19087.hp1 NA19065.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0056 a0001c0001t0001g0059	2	242	0.0083	354	c.43 others(365): Show c.4329_*4330insGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGA GCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGG GCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGG GGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTG AGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGC GGGGCCGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4149		chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(347): Show CGGGGGGGGCGGGAGGCGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGTCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAA GGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCG GGAGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0218 a0001c0001t0057g0218	1	222	0.0045	354	c.914 others(373): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCC TCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCC CCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTC CCGCCCCCCCGACTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCC GCCTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCC CCCGCCTCCTCCGCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(347): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGAAGGGGGGAGGCGGGGGGGCG GGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAA GGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCG GGAGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0046 a0001c0011t0046	a0001c0011t0046g0142 a0001c0011t0046g0142	1	222	0.0045	354	c.914 others(373): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCC TCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCC CCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTT CCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCC GCCTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCC CCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(347): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGCGGGGGGGCGGGAGGGGT GGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGA GGGGGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGAGGGAGGGGAA GGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCG GGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0138 a0001c0001t0047g0138	1	222	0.0045	354	c.914 others(373): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCC CTCCCGCCCCCCCGCCTCCTCCCCCTCCCACCCCTCCCGCCCCCCCGCCC CCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTC CCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCC GCCTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCC CCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar

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