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
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(220): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCCGTCCCCCGT CCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCC ATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGT CCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	452	0.0022	227	c.757 others(242): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCC CCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCA TCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(220): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCA TCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTC CCCCATCCCCCGTCCCCATCCCCCCACC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	452	0.0022	227	c.757 others(242): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCAT CTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(220): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCA TCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCATCTCCTGTCCCACGT CCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	452	0.0022	227	c.757 others(242): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCA TCTCCTGTCCCACGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(220): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCA TCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCATCTCCTGTCCCCCGT CCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp2 others(100): Show HG00099.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01981.hp1 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02300.hp1 HG02486.hp1 HG02723.hp2 HG02738.hp2 HG03139.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19043.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0020 a0001c0003t0003 a0002c0006t0002	a0001c0001t0001g0002 a0001c0001t0001g0075 a0001c0001t0001g0100 others(76): Show a0001c0001t0001g0002 a0001c0001t0001g0075 a0001c0001t0001g0100 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0317 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0070 a0001c0001t0002g0104 a0001c0001t0002g0194 a0001c0001t0002g0219 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0336 a0001c0001t0002g0339 a0001c0001t0002g0342 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0360 a0001c0001t0002g0363 a0001c0001t0003g0014 a0001c0001t0003g0042 a0001c0001t0003g0064 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0088 a0001c0001t0003g0093 a0001c0001t0003g0234 a0001c0001t0003g0290 a0001c0001t0003g0298 a0001c0001t0003g0311 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0358 a0001c0001t0003g0361 a0001c0001t0019g0345 a0001c0001t0020g0002 a0001c0003t0003g0362 a0002c0006t0002g0046	103	452	0.2279	227	c.757 others(242): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCA TCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(220): Show GCCCACCCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCC ATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGT CCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCC ATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGT CCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	452	0.0022	227	c.757 others(242): Show c.757-202_757-201insCCCCCATCCCCCGTCCCCATCCCCCATCCC CCGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCA TCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCC CCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCA TCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420669	A A	ACCCCATC others(220): Show ACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCC CCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCC ATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCC CCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCC ATCCCCCGTCCCCATCCCCCACCCCCAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	452	0.0022	227	c.757 others(242): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCAT CTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCAT	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTT others(220): Show ATTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA19064.hp2 HG01943.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0009 a0001c0001t0001g0020	2	280	0.0071	227	c.3+2 others(242): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(220): Show AATATATATTTTATATTTTTATATAAATATAAATAATATATTTATATTTA TATATTATATATAAATAAATTATATATAAATAAATAAATATAAATATAAA TAAAAAATATATTATATATTTAAATATATATATTTTTAATATATATATTT TTAAATATATATATTTATATATATATTTTTATATATATATATTTATATAT ATATTTTTAAATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0109 a0001c0003t0002g0109	1	408	0.0025	227	c.182 others(244): Show c.182-2710_182-2709insTTTATATTTTTATATAAATATAAATAAT ATATTTATATTTATATATTATATATAAATAAATTATATATAAATAAATAA ATATAAATATAAATAAAAAATATATTATATATTTAAATATATATATTTTT AATATATATATTTTTAAATATATATATTTATATATATATTTTTATATATA TATATTTATATATATATTTTTAAATATATATATATATATTTATATATAT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPH3AL_chr17_207389_357807	309623	A A	ATGTCCCC others(220): Show ATGTCCCCCGCCCTGCCCAGGGCTCCTGCCAGCCCCCTGCTGGGGGTCCG GGATATGGCATGTCCCCCGCCCTGCCCAGGGCTCCTGCCAGCCCCCCTGC TGGGGGTCCAGGATACGGCATGTCCCCCGTCCAGGGCTCCTGCCAGCCCC GCTGCTGGGGGTCCGGGATACGGCATGTCCCCCGTCCAGGGCTCCTGCCA GCCCCCCTGCTGGGGGTCCGGGATATGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0097	1	133	0.0075	227	c.351 others(244): Show c.351+9796_351+9797insCCATATCCCGGACCCCCAGCAGGGGGGC TGGCAGGAGCCCTGGACGGGGGACATGCCGTATCCCGGACCCCCAGCAGC GGGGCTGGCAGGAGCCCTGGACGGGGGACATGCCGTATCCTGGACCCCCA GCAGGGGGGCTGGCAGGAGCCCTGGGCAGGGCGGGGGACATGCCATATCC CGGACCCCCAGCAGGGGGCTGGCAGGAGCCCTGGGCAGGGCGGGGGACA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665499	T T	TTTCCTTT others(220): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCATTTCCTTCCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0002 a0001c0023t0002	a0001c0023t0002g0049 a0001c0023t0002g0049	1	196	0.0051	227	c.348 others(246): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCATTTCCTTCCTTTCCTTCTTC C	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTP3_chr3_46492976_46505950	46494948	T T	TGGGAGGG others(220): Show TGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCTGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCATCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	426	0.0024	227	c.-31 others(238): Show c.-3115_-3114insGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGC CAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		3027		chr3	TogoVar
SARDH_chr9_133658560_133743352	133669160	C C	CTCCTTCC others(220): Show CTCCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTT ACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCTCCTTCCCTCTCCCTCAC CCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACC CTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCTCTCTCCTTCCCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0002 a0002c0053t0002	a0002c0053t0002g0030 a0002c0053t0002g0030	1	262	0.0038	227	c.249 others(246): Show c.2495+1423_2495+1424insAAGGGAGAGGGAAGGAGAGAGAGAGG GAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATGG AGGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGA GGGTGAGGGAGAGGGAAGGAGAGGGAGAGGGAAGGTGAGGGAGAGGGAGG GTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGG A	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCGB1C2_chr17_132569_144067	140867	A A	ACATGGGG others(220): Show ACATGGGGGGGACCTTGGTGAGGGGGCCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG GGACATAGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0021 a0001c0005t0001g0021	1	402	0.0025	227	c.19 others(238): Show c.1925_*1926insCATGGGGGGGACCTTGGTGAGGGGGCCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATAGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1801		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	C C	CCGTGTCT others(220): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCCCTGCTCCGTCCCCGTGTCTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0015 a0002c0003t0002g0015	1	290	0.0035	227	c.166 others(244): Show c.1662+777_1662+778insGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289848	T T	TCTCTGCT others(220): Show TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCCCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0005 a0001c0018t0005	a0001c0018t0005g0224 a0001c0018t0005g0224	1	290	0.0035	227	c.166 others(244): Show c.1663-422_1663-421insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGCZ_chr8_14079845_15243431	15119560	A A	AATTTTCT others(220): Show AATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp1 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0088 a0001c0001t0054 a0001c0001t0088	a0001c0001t0054g0058 a0001c0001t0088g0054 a0001c0001t0054g0058 a0001c0001t0088g0054	2	102	0.0196	227	c.39+ others(246): Show c.39+118024_39+118025insCAGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA T	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SIMC1_chr5_176233424_176350989	176306403	T T	TCTCCTTC others(220): Show TCTCCTTCTCTCTCTCCCTCTGTTCTGGGCCACCCAGAGCTAGGGGGGTG GAGATACAAGCACCAATATGGCCATCACCACTGAGAATGTACTGGGTCAG ACATGAAGCTGGCACCACACTGGGTCTCGCCATGGCCCACTGTAACCATG ATCTGGCTGCCTATGTTCCCTCAATGCCCTGTTGTGAAGCCAGCCAGGCT AGCTTCAAGCCAGTGAGTTCCCCCAGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp2 others(98): Show HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01109.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02683.hp1 HG02735.hp1 HG03017.hp2 HG03492.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04199.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0001 a0001c0010 a0008c0009 others(1): Show a0001c0001 a0001c0010 a0008c0009 a0010c0012	a0001c0001t0001 a0001c0010t0001 a0008c0009t0001 others(1): Show a0001c0001t0001 a0001c0010t0001 a0008c0009t0001 a0010c0012t0001	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0029 others(98): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0360 a0001c0010t0001g0036 a0008c0009t0001g0039 a0008c0009t0001g0135 a0010c0012t0001g0060	101	360	0.2806	227	c.173 others(246): Show c.1735-7288_1735-7287insCTCCTTCTCTCTCTCCCTCTGTTCTG GGCCACCCAGAGCTAGGGGGGTGGAGATACAAGCACCAATATGGCCATCA CCACTGAGAATGTACTGGGTCAGACATGAAGCTGGCACCACACTGGGTCT CGCCATGGCCCACTGTAACCATGATCTGGCTGCCTATGTTCCCTCAATGC CCTGTTGTGAAGCCAGCCAGGCTAGCTTCAAGCCAGTGAGTTCCCCCAGG C	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9			chr5	TogoVar
SLAIN1_chr13_77692687_77769229	77704080	A A	ATACATAT others(220): Show ATACATATGTTTTATATGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACATATAAAACATATGTATATAAAATATA TATACATATGTTTTATATGTGTATATATACACATATAAAATATATATACA TATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTT TTCTATGTATATATACATAGAAAATATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	300	0.0033	227	c.626 others(244): Show c.626+5559_626+5560insGTATATATACACATATAAAATATATATA CATATGTTTTATATGTGTATATATACATATAAAACATATGTATATAAAAT ATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTCTATGTATATATACATAGAAAATATGTACATATGTTTTATATGT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC17A5_chr6_73588379_73658992	73601441	G G	GCCCCGTC others(220): Show GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCC ACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGTGG GGGGCTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCACCCCGCCTGGCCAGCCA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03688.hp2 NA20905.hp2 HG03669.hp2 HG03688.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0051 a0001c0001t0004g0053 a0001c0001t0004g0054	3	324	0.0093	227	c.126 others(246): Show c.1260-1001_1260-1000insTGGCTGGCCAGGCGGGGTGCTGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAGCC CCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG G	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	9/10			chr6	TogoVar
SLC22A12_chr11_64586220_64607344	64596021	G G	GGTTTGAT others(220): Show GGTTTGATGGTTGAATGGATGGATGGATGGAATGGATGGATGAATGGAAT TGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAATAGAT GGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATG CATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATG GATGGATGGGATGGATGGATGGATGGAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02559.hp1 HG00735.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	2	390	0.0051	227	c.830 others(244): Show c.830+2219_830+2220insTTTGATGGTTGAATGGATGGATGGATGG AATGGATGGATGAATGGAATTGATGGATGGATGGGATGGATGGATGGATT GATGGATAGTTGGAATAGATGGAATGGATGGATGGATGGATGGTCGAATG GATAGTTGAATGGATGGATGCATGGATGGATGGATGGATGGAATGGATGG ATGGATGGAATGGATGGATGGATGGATGGGATGGATGGATGGATGGATG	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC25A6_chrX_1381152_1397113	1392962	C C	CCCTCCCG others(220): Show CCCTCCCGCCTCCCTCCTCCCGCCTCCCGCCTCCCTCCTCCCTCCCTCCC GCCTCCCGCCTCCCGCCTCCCTCCCTCCCCCCTCCTCCCTCCCTCCCGCC TCCCTCCTCCCTCCTCCCGCCTCCTCTCCCTTCCCGGCTCTCTCCCGCCT CCCTCCCTCCCTCCCTCCCGCCTCCCTCCCTCCCTCCTCCCTCCTCCCGC CTCCCGCCTCCCTCCCTCCCGCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	196	0.0051	227	c.-95 others(236): Show c.-954_-953insAGGGAGGCGGGAGGGAGGGAGGCGGGAGGCGGGAGG AGGGAGGAGGGAGGGAGGGAGGCGGGAGGGAGGGAGGGAGGGAGGCGGGA GAGAGCCGGGAAGGGAGAGGAGGCGGGAGGAGGGAGGAGGGAGGCGGGAG GGAGGGAGGAGGGGGGAGGGAGGGAGGCGGGAGGCGGGAGGCGGGAGGGA GGGAGGAGGGAGGCGGGAGGCGGGAGGAGGGAGGCGGGAGG	SLC25A6	ENSG00000169100.14	transcript	ENST00000381401.11	protein_coding		850		chrX	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747501	G G	GAAGGGGG others(220): Show GAAGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGCAGG TGGTGAGCAGGGCCAGGTGGAGGTTGGAAGGGGGGGCAGGGGGTGAGCAG GGCCTGGTGGAGGTGGGGGGGGCAGGGGGTGAGCAGGGCCCGGTGGAGGT TGGGAGGGGGGCCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGCGGGG CAGGGGGTGAGCAGGGCCTGGTTGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	227	c.45 others(238): Show c.4511_*4512insAAGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGA GGTGGGGGGGGCAGGTGGTGAGCAGGGCCAGGTGGAGGTTGGAAGGGGGG GCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGCAGGGGGTGAGCA GGGCCCGGTGGAGGTTGGGAGGGGGGCCAGGGGGTGAGCAGGGCCTGGTG GGTGGGGGGGCGGGGCAGGGGGTGAGCAGGGCCTGGTTGGGGT	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3452		chr20	TogoVar
SLC2A5_chr1_9030106_9074635	9053445	A A	ATATATAT others(220): Show ATATATATTTATATATATTATATATTTATATATTATATATATTTATATAT ATTATATATTTATATATTATATATATTTATATATATTATATATATTTATA TATATTATATATTTATATATTATATATATTTATATATATTATATATTTAT ATATTATATATATTTATATATATTATATATATTTATATATTATATATATT TATATATATTATATATATTTATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0106 a0001c0001t0011g0106	1	336	0.0030	227	c.293 others(244): Show c.293+4002_293+4003insATATATATAAATATATATAATATATATA AATATATATAATATATAAATATATATAATATATATAAATATATATAATAT ATAAATATATAATATATATAAATATATATAATATATAAATATATAATATA TATAAATATATATAATATATATAAATATATATAATATATAAATATATAAT ATATATAAATATATATAATATATAAATATATAATATATATAAATATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1414399	G G	GGGGGGCC others(220): Show GGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGA GGGTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGG GGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCAGGGAAGGCGCTGGGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0037 a0001c0003t0001g0037	1	373	0.0027	227	c.115 others(244): Show c.1156+291_1156+292insACCCAGCGCCTTCCCTGCCCTGCCCCTC CCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCC CCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCC TCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLX9_chr21_44935029_44981973	44981929	C C	CGGGCCCT others(220): Show CGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGG CCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACA GCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGG GGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTG TTCAGAGGGGGACAGCGGGGCCTGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	334	0.0030	227	c.51 others(238): Show c.5126_*5127insGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCA GAGGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGG TGTTCAGAGGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGC GTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAG AGCCTGCGTGTGGTGTTCAGAGGGGGACAGCGGGGCCTGGACG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4957		chr21	TogoVar
SMYD3_chr1_245744347_246512279	246071783	G G	GTAGTTCT others(220): Show GTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTG CATCCTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTG TCGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTG CTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTC CACTGTGCTCACTGTGGATGCTTCCTGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0109 a0002c0003t0001g0109	1	150	0.0067	227	c.532 others(248): Show c.532-141847_532-141846insACAGGAAGCATCCACAGTGAGCAC AGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAG TGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACACGATGCA GCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTACAG GATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAA CTA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1342275	T T	TGCTCTGT others(220): Show TGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGG AAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGG GCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGA CTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTT TCCCCCTGTTCTGGGCACGCCTGGCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0088 a0004c0004t0001g0088	1	190	0.0053	227	c.148 others(248): Show c.1489-25053_1489-25052insGGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCC CCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCT CTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGA CTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGAC AGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343719	G G	GGCACTTT others(220): Show GGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGTGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0048 a0018c0023t0001g0048	1	190	0.0053	227	c.148 others(248): Show c.1489-23612_1489-23611insCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGTGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC CCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344448	A A	AGCAGCTT others(220): Show AGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0048 a0018c0023t0001g0048	1	190	0.0053	227	c.148 others(248): Show c.1489-22833_1489-22832insGGCACTTTTCCCCTGTTCTGGGCA CGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCC CCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345985	G G	GGCACTTT others(220): Show GGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGC GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0001 a0009c0029t0001	a0009c0029t0001g0152 a0009c0029t0001g0152	1	190	0.0053	227	c.148 others(248): Show c.1489-21346_1489-21345insTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC CCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX6_chr14_34556093_34635148	34557550	C C	CTCTTCTT others(220): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCT TCTTTCTTCTTCCTTTCTTCTTTCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0272 a0001c0001t0020g0272	1	322	0.0031	227	c.55 others(238): Show c.5571_*5572insAGCAGAAAGAAGAAAGGAAGAAGAAAGAAGAAGA AGAAGAAGAAGAAGAAGAAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3542		chr14	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(220): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19002.hp1 NA18999.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0039 a0002c0002t0002g0040	2	302	0.0066	227	c.12+ others(242): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(220): Show ATATATTGTATATTATATATACTATATATTGTATATATACTATATATTGT ATATTATATATACTATATAGTATAATACAGTATAATATATATACTATATA CTGTATATTATATATACAATATACAGTATATTATATATACAATATATAGT ATATATAATATACAGTATATAGTATATATAATATACTATATATAGTATAT ATACAATATACTATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02572.hp2 others(2): Show HG01891.hp1 HG02257.hp1 HG02572.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0016 a0001c0001t0049 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0049 a0001c0002t0016	a0001c0001t0002g0002 a0001c0001t0016g0014 a0001c0001t0049g0003 others(2): Show a0001c0001t0002g0002 a0001c0001t0016g0014 a0001c0001t0049g0003 a0001c0002t0016g0010 a0001c0002t0016g0011	5	289	0.0173	227	c.168 others(246): Show c.1682-7647_1682-7646insTATATATACTATATATTGTATATATA CTATATATTGTATATTATATATACTATATAGTATAATACAGTATAATATA TATACTATATACTGTATATTATATATACAATATACAGTATATTATATATA CAATATATAGTATATATAATATACAGTATATAGTATATATAATATACTAT ATATAGTATATATACAATATACTATATATGTTTATACTGTATATTGTATA T	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
STOML3_chr13_38960925_38995831	38988436	A A	ATAATATG others(220): Show ATAATATGTTATATTTTATATCATATATTTTATATATTATATTTTACATC ATATATTTTATATAAAATATATTATATTTTATATCATATATTTTATATCA TATATTTTATATATAATATATTTTATATCATATATTTTATATATAATATA TTTTATATCATATATTTTATATATAATATATTTTATATCATATATTTTAT ATAGAATATATTTTATATCATATATTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0080 a0002c0002t0008g0080	1	396	0.0025	227	c.52+ others(242): Show c.52+2233_52+2234insAAAATATATGATATAAAATATATTCTATAT AAAATATATGATATAAAATATATTATATATAAAATATATGATATAAAATA TATTATATATAAAATATATGATATAAAATATATTATATATAAAATATATG ATATAAAATATATGATATAAAATATAATATATTTTATATAAAATATATGA TGTAAAATATAATATATAAAATATATGATATAAAATATAACATATTA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
SUN1_chr7_827476_879934	868568	T T	TGGGGGGG others(220): Show TGGGGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGACAGT GCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTG TGGTGTTGGTCGGATTGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCG GATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCA GTGCTGGTTCCCTGTGGTGTTGGTCGGA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0249 a0001c0004t0002g0249	1	418	0.0024	227	c.198 others(244): Show c.1981-781_1981-780insGGGGGGGCAGTGCTGGTTCTCTGTGGTG TTGGTCGGATGGGGGGACAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGG GGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATTGGGGGGCAGTGCT GGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGG TGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGA	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18			chr7	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATGTGTA others(220): Show TATGTGTATATACATATATACATATACACATATGTGTATATATACATATA TACATATACACCTATGTGTATATATAACACATATATACACCTATGTGTAT ATATAACACATATATACACCTATGTGTATATATAACACATATATACACCT ATGTGTATATATAACACATATATACACCTATGTGTATATATACATATATA CATATACACATATGTGTATATATAACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18982.hp2 NA19010.hp1 others(3): Show HG02922.hp2 NA18982.hp2 NA19010.hp1 NA19072.hp2 NA19080.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0040 a0001c0001t0006 a0001c0001t0007 a0001c0001t0040	a0001c0001t0006g0090 a0001c0001t0006g0183 a0001c0001t0006g0253 others(3): Show a0001c0001t0006g0090 a0001c0001t0006g0183 a0001c0001t0006g0253 a0001c0001t0007g0111 a0001c0001t0007g0122 a0001c0001t0040g0180	6	376	0.0160	227	c.158 others(246): Show c.1582-2863_1582-2862insGTGTATATACATATATACATATACAC ATATGTGTATATATACATATATACATATACACCTATGTGTATATATAACA CATATATACACCTATGTGTATATATAACACATATATACACCTATGTGTAT ATATAACACATATATACACCTATGTGTATATATAACACATATATACACCT ATGTGTATATATACATATATACATATACACATATGTGTATATATAACACA T	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATGTGTA others(220): Show TATGTGTATATACATATATACATATACACCTATGTGTATATATACATATA TACATATACACCTATGTGTATATATAACACATATATACACCTATGTGTAT ATATAACACATATATACACCTATGTGTATATATAACACATATATACACCT ATGTGTATATATAACACATATATACACCTATGTGTATATATACATATATA CATATACACATATGTGTATATATAACAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0243 a0001c0001t0006g0243	1	376	0.0027	227	c.158 others(246): Show c.1582-2863_1582-2862insGTGTATATACATATATACATATACAC CTATGTGTATATATACATATATACATATACACCTATGTGTATATATAACA CATATATACACCTATGTGTATATATAACACATATATACACCTATGTGTAT ATATAACACATATATACACCTATGTGTATATATAACACATATATACACCT ATGTGTATATATACATATATACATATACACATATGTGTATATATAACACA T	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TECTA_chr11_121096243_121196490	121130945	T T	TGGGCAGG others(220): Show TGGGCAGGAGTAATCAGAGGTGTTCTTGTGTTGTGATAAGGGTGGAGAGG TTAAAGGAGCCACTTATTAGTAATGTTGATAGTAGAATGATGGCTAGGGT GACTTCATATGAGATTGTTTGGGCTACTGCTCGCAGTGCGCCGATCAGGG CGTAGTTTGAGTTTGATGCTCACCCTGATCAGAGGATTGAGTAAACGGCT AGGCTAGAGGTGGCTAGAATAAATAGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp2 HG03195.hp2 others(2): Show HG02559.hp1 HG02723.hp2 HG03195.hp2 HG03225.hp1 NA19240.hp1	a0001 a0025 a0001 a0025	a0001c0005 a0025c0036 a0001c0005 a0025c0036	a0001c0005t0002 a0025c0036t0002 a0001c0005t0002 a0025c0036t0002	a0001c0005t0002g0014 a0001c0005t0002g0272 a0001c0005t0002g0273 others(1): Show a0001c0005t0002g0014 a0001c0005t0002g0272 a0001c0005t0002g0273 a0025c0036t0002g0274	5	348	0.0144	227	c.294 others(244): Show c.2941+736_2941+737insGCAGGAGTAATCAGAGGTGTTCTTGTGT TGTGATAAGGGTGGAGAGGTTAAAGGAGCCACTTATTAGTAATGTTGATA GTAGAATGATGGCTAGGGTGACTTCATATGAGATTGTTTGGGCTACTGCT CGCAGTGCGCCGATCAGGGCGTAGTTTGAGTTTGATGCTCACCCTGATCA GAGGATTGAGTAAACGGCTAGGCTAGAGGTGGCTAGAATAAATAGGAGG	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1273640	G G	GACCGCCA others(220): Show GACCGCCATCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCA CAGTCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGAC CCCACAACCGCCATCCACAGTCACATCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0199 a0001c0017t0002g0199	1	392	0.0026	227	c.228 others(246): Show c.2287-1361_2287-1360insTGATGTGACTGTGGATGGCGGTTGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGAC TGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGG T	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THADA_chr2_43225851_43601038	43297603	G G	GTCAGCCC others(220): Show GTCAGCCCCCCGCCCGGCCAGCCCCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGC CACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	206	0.0049	227	c.443 others(246): Show c.4439-4391_4439-4390insTCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGCGGGGGGCTG A	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
TLN2_chr15_62385550_62849631	62825776	A A	AATATATT others(220): Show AATATATTATATATTATATTATAATATATATTATAATATATATTATATAT TATATTATAATATATATTATATATTATAATATATATTATATATTATATTA TAATATATATTATATATTATAATATATAATATATATTATATTATAATATA TATTATATATTATAATATATAATATATATTATATTATAATATATATTATA TATTATAATATATAATATATATTATAAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0143 a0001c0002t0016g0143	1	144	0.0069	227	c.700 others(246): Show c.7002+5183_7002+5184insTTATAATATATATTATAATATATATT ATATATTATATTATAATATATATTATATATTATAATATATATTATATATT ATATTATAATATATATTATATATTATAATATATAATATATATTATATTAT AATATATATTATATATTATAATATATAATATATATTATATTATAATATAT ATTATATATTATAATATATAATATATATTATAATATATATTATATATTAT A	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	54/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMCO3_chr13_113486021_113555229	113543163	T T	TGTCCGTG others(220): Show TGTCCGTGACCACCTCCTCCCCCTGCCCCTCGCCCTCCCTGTCCGTGACC ACCACCTCCCCCTGCGCCCCTACCCTCCCTGTGTGTTACCCCCACCTCCT CTCCCTGCCCCCCCGTCCGTGACCCCCACCTCCTCCCCCTGCCCCTCGCC CTCCCTGTCCGTGACCACCTCCTCCCCCTGCGCCCCTACCCTCCCTGTGT GTTACCCCCACCTCCTCTCCCTGCCCCC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0266 a0002c0003t0003g0266	1	368	0.0027	227	c.169 others(246): Show c.1690+3656_1690+3657insGTCCGTGACCACCTCCTCCCCCTGCC CCTCGCCCTCCCTGTCCGTGACCACCACCTCCCCCTGCGCCCCTACCCTC CCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCCCCCGTCCGTGACCCCC ACCTCCTCCCCCTGCCCCTCGCCCTCCCTGTCCGTGACCACCTCCTCCCC CTGCGCCCCTACCCTCCCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCC C	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12			chr13	TogoVar
TMEM242_chr6_157284025_157328519	157311428	G G	GCCTCATC others(220): Show GCCTCATCATAGTGCTCCAGTGTGCGCTCACCAGGCCTCATCACTGTCCC AATGGGCGCTCACCTGGCCTCATCATAGTGTGCGCTCACCTACCCTCATC ATAGTGGCCCAGTGAGCACTCAACTAGCCTCATTATAGTGTCCCAGTGTG CATTCAACTAGCCTCATCATAGTGCCCCAGTGTCCGCTCACCTAGCCTCA TCATACTGTCTCAGTGTGAGCTCACCTA	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18944.hp2 NA18946.hp1 others(15): Show HG02071.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18954.hp2 NA18960.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18974.hp1 NA18975.hp1 NA18990.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19060.hp2 NA19085.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0031 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0031 a0001c0001t0033	a0001c0001t0002g0019 a0001c0001t0002g0184 a0001c0001t0002g0193 others(15): Show a0001c0001t0002g0019 a0001c0001t0002g0184 a0001c0001t0002g0193 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0219 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0015g0256 a0001c0001t0015g0257 a0001c0001t0031g0241 a0001c0001t0033g0226	18	344	0.0523	227	c.327 others(244): Show c.327+7353_327+7354insTAGGTGAGCTCACACTGAGACAGTATGA TGAGGCTAGGTGAGCGGACACTGGGGCACTATGATGAGGCTAGTTGAATG CACACTGGGACACTATAATGAGGCTAGTTGAGTGCTCACTGGGCCACTAT GATGAGGGTAGGTGAGCGCACACTATGATGAGGCCAGGTGAGCGCCCATT GGGACAGTGATGAGGCCTGGTGAGCGCACACTGGAGCACTATGATGAGG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM255B_chr13_113754226_113821995	113816055	T T	TATGGGGA others(220): Show TATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGAGTTCTTTTCGGGGA GGCAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGGGGTGCAGTCACTGG TCAGGGACACGGGTTCTTTTCGGGAGGCAAGCGTGTTCGCAGCGTGTTCT GGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGG AGGCAAGCGTGTTCGCAGCGTGTTCTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0173 a0001c0001t0173	a0001c0001t0173g0025 a0001c0001t0173g0025	1	260	0.0039	227	c.41 others(238): Show c.4162_*4163insGTGCAGTCACTGGTCAGGGACACGAGTTCTTTTC GGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGGGGTGCAGTC ACTGGTCAGGGACACGGGTTCTTTTCGGGAGGCAAGCGTGTTCGCAGCGT GTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTT CGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4163	INFO_REALIGN_3_PRIME	chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930835	G G	GTTAGGGA others(220): Show GTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAG GGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGA CCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATT ATGGAGGCAGGGATTAGGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	466	0.0022	227	c.47 others(238): Show c.4755_*4756insTCCCTGCCTCCCTAATCCCTGCCTCCATAATCCC TGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATC CCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4534		chr11	TogoVar
TPO_chr2_1408463_1548673	1532706	T T	TCCCCCCT others(220): Show TCCCCCCTAATCTCTGCAAACTCCCCAAATCCCCCCCATTGTGGGCAACC ACACCAAATCCCGCCACTCTGTGCAACCTCACCAAATTCCCCCCATTCTG TGCAACCTCCCCAAATCCACCAACTCTGTGCAACCTCACAAAATTACTCA TACTGTGTGCAACCTCCTCAAATCCCCGTACTGTGTGCAACCTCCTATCA CCCCCACTGTGTGCAACCTCCTCAAATC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0072 a0004c0007t0004g0072	1	130	0.0077	227	c.261 others(246): Show c.2619-7883_2619-7882insCTAATCTCTGCAAACTCCCCAAATCC CCCCCATTGTGGGCAACCACACCAAATCCCGCCACTCTGTGCAACCTCAC CAAATTCCCCCCATTCTGTGCAACCTCCCCAAATCCACCAACTCTGTGCA ACCTCACAAAATTACTCATACTGTGTGCAACCTCCTCAAATCCCCGTACT GTGTGCAACCTCCTATCACCCCCACTGTGTGCAACCTCCTCAAATCCCCC C	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPSD1_chr16_1251069_1264008	1254938	T T	TAGTCCAT others(220): Show TAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGGTGAGACCATGGGGAGCT GGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGGCTGGGACTA GTTCATGGGGAGCTGGGCTGGGGGCTGGGACTAGTTCATGGGGAGCTGGG CTGGGGCTGGGACTAGTCCATGGGGAGCTGGCTGGGGCTGGGACTAGTTC ATGGGGAGCTGGGCTGGGGCTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	270	0.0037	227	c.-13 others(238): Show c.-1343_-1342insAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGGTG AGACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGG CTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGGCTGGGACTAGT TCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGCTGG GGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGGGTG	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		1130		chr16	TogoVar
TPSD1_chr16_1251069_1264008	1254974	A A	ACCATGGG others(220): Show ACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCT GGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCA TGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGG CTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGTCCATGG GGAGCTGGGCTGGGGCTGGGGGGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	270	0.0037	227	c.-13 others(238): Show c.-1307_-1306insCCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCC ATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGG GCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGG GGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTG GGGGTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGGTGAGT	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		1094		chr16	TogoVar
TPSD1_chr16_1251069_1264008	1254974	A A	ACCATGGG others(220): Show ACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCT GGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGGACTAGTTC ATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGG GCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGTCCATG GGGAGCTGGGCTGGGGCTGGGGGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	270	0.0037	227	c.-13 others(238): Show c.-1307_-1306insCCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCC ATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGG GCTGGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATG GGGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCT GGGGGTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGT	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		1094		chr16	TogoVar
TPSD1_chr16_1251069_1264008	1254974	A A	ACCATGGG others(220): Show ACCATGGGGAGCTGGGCTTGGGGCTGGACTAGTCCATTGGGGAGCTGGGC TGGGGCTGGGACTAGTTCATGGGGAGGCTGGGCTGGGGCTCTGGGACTAG TTCATGGGGAGCTGGGCTGGGGCTGGACTAGTCCATGGGGAGCTGGGCTG GGGCTGGGACTAGTTCATGGGGAGCTGGCTGGGGCTGGGGTGAGTCCATG GGGAGCTGGGCTGGGGCTGGGGGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0001 a0001c0001t0031g0001	1	270	0.0037	227	c.-13 others(238): Show c.-1307_-1306insCCATGGGGAGCTGGGCTTGGGGCTGGACTAGTCC ATTGGGGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGGCTGGGCTG GGGCTCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGACTAGTCCA TGGGGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGCTGGGGC TGGGGTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGT	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		1094		chr16	TogoVar

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