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
CEP70_chr3_138489344_138599260	138543989	T T	TCTATTTA others(477): Show TCTATTTAAAGTAACCTGTTGTCCAGGCACAGGCTCATGCCTGTAATCTC CACATTTTCGGAGGCTAAAGCAGGAGAATTGCTTGAGGCCAGGAGTTCAA GACCAACCTGGCCGACACAGTAAAATCCCCATCTCTTTTAAAAACTCCTT AACTTAAAAAATAACTTGTTATATCTATAAAATGTTTTTTTGTAAATCTC ATGGTAACTACAAAGCAAAAATAAAACAGGTACACTAAAAAAAAAGCAAA AAATTAAAACAACCAAAAAAGAAGAAAATCACTTGACCACAAAGGAAGAC AGTAAAAAAGGAAGAAAACACAATGAGATATCATCTCACTCCAGTTAGAA TGGCTATTACTCAAAAGACAAAAAAAAAAAAAGTACTGGTGAGGATATAG AGAAAGAGGAATCCTGGTACACTATAGGTGGGAATGAAAACTAGTACAAC TACTATGGAAAACAGTATGGAGGTTCCTCAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG00735.hp2 HG01891.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0029 a0004c0006t0005g0030 a0004c0006t0005g0029 a0004c0006t0005g0030	2	316	0.0063	484	c.466 others(501): Show c.466-6643_466-6642insTTTTTTGAGGAACCTCCATACTGTTTTC CATAGTAGTTGTACTAGTTTTCATTCCCACCTATAGTGTACCAGGATTCC TCTTTCTCTATATCCTCACCAGTACTTTTTTTTTTTTTGTCTTTTGAGTA ATAGCCATTCTAACTGGAGTGAGATGATATCTCATTGTGTTTTCTTCCTT TTTTACTGTCTTCCTTTGTGGTCAAGTGATTTTCTTCTTTTTTGGTTGTT TTAATTTTTTGCTTTTTTTTTAGTGTACCTGTTTTATTTTTGCTTTGTAG TTACCATGAGATTTACAAAAAAACATTTTATAGATATAACAAGTTATTTT TTAAGTTAAGGAGTTTTTAAAAGAGATGGGGATTTTACTGTGTCGGCCAG GTTGGTCTTGAACTCCTGGCCTCAAGCAATTCTCCTGCTTTAGCCTCCGA AAATGTGGAGATTACAGGCATGAGCCTGTGCCTGGACAACAGGTTACTTT AAATAG	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	6/17			chr3	TogoVar
CEP72_chr5_607340_658553	650395	G G	GTGAGGTG others(477): Show GTGAGGTGTGACTGTGGGTGTGAGGTGTGACTGTGAGGCGTGGACTGAGG TGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGTGTGACTGTGGGTGTGAGGTGTGACTGTGAGGCGTGGACTGAG GTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGA CTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTG TGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG00735.hp2 others(23): Show HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG02015.hp2 HG02129.hp1 HG02129.hp2 HG04115.hp1 HG04228.hp1 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18982.hp2 NA18999.hp2 NA19007.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065	26	90	0.2889	484	c.177 others(503): Show c.1779-2500_1779-2499insACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGGGT GTGAGGTGTGACTGTGAGGCGTGGACTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTG ACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGT GGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGG ACTGTGAGGTGTGACTGAGGTGTGACTGTGGGTGTGAGGTGTGACTGTGA GGCGTGGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(477): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCC TCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC TTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTT CCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCC TTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCC CCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTC CTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	8	0.1250	484	c.69 others(495): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCC TCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTC CTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTT CTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCC CTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCC CCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTT CCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(477): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCT TCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCC TCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCC CCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTC CTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0006	1	8	0.1250	484	c.69 others(495): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTC TTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCC CCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTT CCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(477): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAAATATAAAATAAATATTTATTTAATATATAAAATAAATA TTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATT TATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATT TTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01175.hp1 HG02004.hp1 HG01070.hp1 HG01175.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0231 a0001c0001t0001g0043 a0001c0001t0001g0231	3	94	0.0319	484	c.80- others(499): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAAATATAAAATAAATATTTATTTAATATATAAAATAAATATTTA TTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTATT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTAT TTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAA AATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(477): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATT TTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	92	0.0109	484	c.80- others(499): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTAT TTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAA AATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(477): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAAATATTAAAATAAATATTTATT TTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	92	0.0109	484	c.80- others(499): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAAATATTAAAATAAATATTTATTTTAT TTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAA AATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(477): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTATATATAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATT TATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATT TTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	92	0.0109	484	c.80- others(499): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTATATATAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTATT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTAT TTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAA AATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNOT3_chr19_54132762_54160681	54133923	C C	CCCCTCCC others(477): Show CCCCTCCCTCTCTCCACCTTCCCCTCCCCTCCTCCCTCCCTCCCTCTCTC CACCTCCCCTCTCTCCACCTCCCCTCTCTCTCCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCTCCACCTCCCCTCTCTCTCT CCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACC TCCCCCTCCCTCTCTCCACCTTCCCCTCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	205	0.0049	484	c.-41 others(495): Show c.-4121_-4120insCCCTCCCTCTCTCCACCTTCCCCTCCCCTCCTCC CTCCCTCCCTCTCTCCACCTCCCCTCTCTCCACCTCCCCTCTCTCTCCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CTCCACCTTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCTCCAC CTCCCCTCTCTCTCTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACC TTCCCTCTCTCCACCTCCCCCTCCCTCTCTCCACCTTCCCCTCTCTCCCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3838		chr19	TogoVar
COL4A3_chr2_227159624_227319792	227203378	T T	TGTGTATA others(477): Show TGTGTATATACACACACATATGTGTATATATATGTGTATATACACACACA TATGTGTATATATGTGTGTATATGTGTATATACACATATATGTGTGTATA TGTGTATATACACATACACATATATGTGTGTATATGTGTATATACACATA CACATATATGTGTGTATATGTGTATATACACATACACATATATGTGTGTA TATGTGTATATACACATACACATATATGTGTGTATATGTGTATATACACA TACACATATATGTGTGTATATGTGTATATACACATACACATATATGTGTG TATATGTGTATATACACATACACATATATGTGTGTATATGTGTATATACA CATACACATATATGTGTATGTGTATATACACATACACATATATGTGTGTA TGTGTATATACACATACACATATATGTGTGTATATGTGTATATACACATA CACATATATGTGTGTATATGTGTATATACACATAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0006 a0006c0010t0006	a0006c0010t0006g0057 a0006c0010t0006g0057	1	314	0.0032	484	c.88- others(501): Show c.88-34590_88-34589insGTGTATATACACACACATATGTGTATAT ATATGTGTATATACACACACATATGTGTATATATGTGTGTATATGTGTAT ATACACATATATGTGTGTATATGTGTATATACACATACACATATATGTGT GTATATGTGTATATACACATACACATATATGTGTGTATATGTGTATATAC ACATACACATATATGTGTGTATATGTGTATATACACATACACATATATGT GTGTATATGTGTATATACACATACACATATATGTGTGTATATGTGTATAT ACACATACACATATATGTGTGTATATGTGTATATACACATACACATATAT GTGTGTATATGTGTATATACACATACACATATATGTGTATGTGTATATAC ACATACACATATATGTGTGTATGTGTATATACACATACACATATATGTGT GTATATGTGTATATACACATACACATATATGTGTGTATATGTGTATATAC ACATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(477): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0030 a0030	a0030c0106 a0030c0106	a0030c0106t0014 a0030c0106t0014	a0030c0106t0014g0042 a0030c0106t0014g0042	1	16	0.0625	484	c.416 others(505): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCC CCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCTCCCCCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTCACATC CCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DCDC2C_chr2_3698575_3853008	3725401	G G	GGCAGAGA others(477): Show GGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGA GAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGA GGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGG GAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	174	0.0057	484	c.340 others(501): Show c.340-1594_340-1593insGGAGGAGGCTGCCCGGTGGATCCCGGAG GGAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGG AGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGC AGAGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725599	A A	AGGTGGAT others(477): Show AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTG CCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGCTGCCAGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCC CGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0287 a0001c0002t0004g0287	1	190	0.0053	484	c.340 others(501): Show c.340-1395_340-1394insCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTG GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGA GTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGG AGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132149256	C C	CGCCGCCT others(477): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	484	c.-49 others(495): Show c.-4961_-4960insCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGA GTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGG CGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGG CACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCA CCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGG GGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4938		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149270	C C	CACCACAC others(477): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	275	0.0036	484	c.-49 others(495): Show c.-4975_-4974insAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTATGAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGC GGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACT CACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCCGCACTCACCGA GGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGAT TAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGG TGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4952		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149309	G G	GCTCACAC others(477): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0029 a0003c0003t0029	a0003c0003t0029g0045 a0003c0003t0029g0045	1	254	0.0039	484	c.-50 others(495): Show c.-5014_-5013insTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGT GTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTG TGAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCG AGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGG CGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCAC TCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCG AGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGA TTAGGGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGG GTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGG TGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4991		chr12	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GAGAAGAA others(477): Show GAGAAGAAGGAGAAGAAGGGAGTGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAGAAGAGGGCG GGGAGGGGAGGGGGGAGGGGAGGGGAGGGTGATGGGGAGGGGAGGGGAGG GGAAGGGAGGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGG CGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAG AGGGGCGGGGCGGAGAGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGC GGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCG GAGAGGGGCGGGGCGGAGAGGGGCGGGGGCGGGGGCAGACGGGGAGGGGA GGGGCAGACGGGGAGGGGAGGGGCAGACGGGGAGGGGAGGGGCAGACGGG GAGGGGAGGGGCAGACGGGGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0076 a0001c0007t0002g0076	1	57	0.0175	484	c.158 others(501): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCCCCGTCTGCCCC TCCCCTCCCCGTCTGCCCCTCCCCTCCCCGTCTGCCCCTCCCCTCCCCGT CTGCCCCTCCCCTCCCCGTCTGCCCCCGCCCCCGCCCCTCTCCGCCCCGC CCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTC TCCGCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCTCTCCGCCC CGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCC CTCTCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCT CCCTTCCCCTCCCCTCCCCTCCCCATCACCCTCCCCTCCCCTCCCCCCTC CCCTCCCCGCCCTCTTCTCCCTTCTTCTCCCTTCTTCTCCCCTCCCCTCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCACTCCCTTCTTCTCCT TCTTCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIRAS1_chr19_2709567_2726372	2713342	C C	CCGTCACT others(477): Show CCGTCACTGTCTACACCGATCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCACCACCTCCTCCACCCTTAATGCCATCTCTCACTTCCT ACACCCATCACCTCCTCCACCCTTCATCCCATCCATCACTGTCTACACCC ATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACGCACCACC CCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTT CATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCT CACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTC CTACACCCGTCACCTCCTCCACCCTTCATCCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	408	0.0025	484	c.38 others(495): Show c.3867_*3868insAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTA GGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGA TGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGAT GAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGG TGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGG GGGTGGTGCGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGA TGGGTGTAGACAGTGATGGATGGGATGAAGGGTGGAGGAGGTGATGGGTG TAGGAAGTGAGAGATGGCATTAAGGGTGGAGGAGGTGGTGGGTGTAGGAA GTGAGGGATGGGATGAAGGGTGGAGGAGGTGATCGGTGTAGACAGTGACG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1224		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713562	C C	CCCTCACT others(477): Show CCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC GTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACGCACCACC CCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTT CATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCT CACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTC CTACACCCGTCACCTCCTCCACCCTTCATCCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	384	0.0026	484	c.36 others(495): Show c.3647_*3648insAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTA GGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGA TGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGAT GAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGG TGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGG GGGTGGTGCGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGA CGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTG TAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAA GTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1004		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(477): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCC CTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTAC ACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAC CACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCTC CTCCACCCTTCATCCCATTCCTCACTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	73	0.0137	484	c.36 others(495): Show c.3631_*3632insGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGA GGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGA AGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTG GAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAG GTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713625	T T	TCACCTCC others(477): Show TCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCACCCCA TCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCTTC ACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCC TACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACC CACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCAC CTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTC CACCCTTCATCCCATTCCTCACTTCCTACACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	370	0.0027	484	c.35 others(495): Show c.3584_*3585insGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGA GGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGT GGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGT AGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAG TGAAGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGG ATGGGGTGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGA TGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGG GTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAG GAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		941		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713673	C C	CTCCTCCA others(477): Show CTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTC CACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCT TCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCC CATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCC TCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTT CCTACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACA CCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATC ACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACCCACCACCTCC TCCACCCTTCACCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACC CTTCACACCATCCCTCACTTCCTACACCCACCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02809.hp2 HG02451.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	2	410	0.0049	484	c.35 others(495): Show c.3536_*3537insAGTGGTGGGTGTAGGAAGTGAGGGATGGTGTGAA GGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGG AGGAGGTGGTGGGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGG TGATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGG GTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAG GAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTG AGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGAT GGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATG AAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGA	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		893		chr19	TogoVar
DISP3_chr1_11474155_11542551	11522728	G G	GCCCAGCC others(477): Show GCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAG CCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCC AAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCA GGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGGCCCAGCCAGAGCCCAGCCAGTGCCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp2 HG02559.hp2 HG02970.hp2	a0010 a0021 a0010 a0021	a0010c0019 a0021c0036 a0010c0019 a0021c0036	a0010c0019t0008 a0021c0036t0008 a0010c0019t0008 a0021c0036t0008	a0010c0019t0008g0016 a0021c0036t0008g0312 a0010c0019t0008g0016 a0021c0036t0008g0312	2	116	0.0172	484	c.236 others(503): Show c.2363-1205_2363-1204insAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAG AGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCA GCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAG CCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGTGCCCAGC CAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGAC CCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DPEP1_chr16_89608642_89643433	89619487	G G	GCCCCCCC others(477): Show GCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCC ATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	202	0.0050	484	c.-10 others(503): Show c.-107+5774_-107+5775insCTGCTCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGC AGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(477): Show ATATATACTATATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATACTATATATATAGTATATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATAT AGTATATATATATAGTGTATATATATAGTATATATATATAGTGTATATAT ATAGTATATATATAGTATATATATAGTATATATAGTATATATGTATATAT ATATAGTATATATATAGTATATATAGTATATATGTATATATATATAGTAT ATATATAGTATATATATATAGTATATATATAGTAT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0174 a0001c0002t0004g0174	1	169	0.0059	484	c.355 others(503): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATACT ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATA GTATATATATATAGTATATATATAGTATATATATATAGTGTATATATATA GTATATATATATAGTGTATATATATAGTATATATATAGTATATATATAGT ATATATAGTATATATGTATATATATATAGTATATATATAGTATATATAGT ATATATGTATATATATATAGTATATATATAGTATATATATATAGTATATA TATAGTAT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
EHMT1_chr9_137614005_137841127	137716082	G G	GTGGTGGG others(477): Show GTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	145	0.0069	484	c.86- others(497): Show c.86-495_86-494insGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
GPR173_chrX_53043789_53085615	53074119	T T	TATAAATA others(477): Show TATAAATATATAAATATACATTTATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACA TGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTATT CATATATAAATATATGTAAATATACATGTATATTTATTCATATATAAATA TATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAATATA CATGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTA TTCATATATAAATATATGTAAATATACATGTATATTTATTCATATATAAA TATATGTAAATATACATGTATATTTATTCATATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	175	0.0057	484	c.-97 others(501): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTA AATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTA TATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATA TATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATG TAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACATG TATATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCA TATAGA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(477): Show CCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCCATCC ATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCT ATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCT GGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATCCAT TCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCC ATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCATCC ATCCATCCATCCATGCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01975.hp2 others(4): Show HG00099.hp1 HG00642.hp1 HG01975.hp2 HG01981.hp2 HG02273.hp2 HG02293.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0043 a0001c0001t0002 a0001c0001t0004 a0001c0001t0043	a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 others(4): Show a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0311 a0001c0001t0004g0295 a0001c0001t0043g0312	7	128	0.0547	484	c.283 others(501): Show c.283+5214_283+5215insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTAC CCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCAT CCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGCATCCATCC ATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643171	C C	CCATCCAT others(477): Show CCATCCATTTATCCATCCCTGGATCCATCCATCCATCCATCCATCCATCC ATCCGTCCATCCATCTATCCATCCATCCATTTATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCTATCCATTT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCTGGATCCAT CTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATGC ATCTATCCATCCATCCATCCATCCATCCATCCATTCATTTATCCATCCCT GGATCCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTT ACCCATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCGTGGATCCATCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0048 a0001c0001t0011g0048	1	326	0.0031	484	c.283 others(501): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCAT CCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGC ATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(477): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATACGGAATATATATACGGAATGTATATACGGAATATATATATATGGAA TATATATACGGAATATATATATATGGAATATATATACGGAATATATATAT ATGGAATATATATACGGAATATATATATATGGAATATATATACGGAATAT ATACATATGGAACATATATATACGGAATATATACATATGGAACATATATA TACGGAATATATACATATGGAACATATATATGGAATATATACATATGGAA CATATATATGGAATATATACATATGGAACATATATATGGAATATATATAT ATGGAACATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATGGAATATATATATATGGAATATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0120 a0001c0001t0022g0120	1	62	0.0161	484	c.-21 others(495): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATACGGAATGTATATACGGAA TATATATATATGGAATATATATACGGAATATATATATATGGAATATATAT ACGGAATATATATATATGGAATATATATACGGAATATATATATATGGAAT ATATATACGGAATATATACATATGGAACATATATATACGGAATATATACA TATGGAACATATATATACGGAATATATACATATGGAACATATATATGGAA TATATACATATGGAACATATATATGGAATATATACATATGGAACATATAT ATGGAATATATATATATGGAACATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IL3RA_chrX_1331785_1387689	1337913	G G	GCCACACA others(477): Show GCCACACAGTGGAATATTACACAGCCATGAAAAGGAACAAGCAGCTTTAT TCACAATAGCCAAGAGGTGGAGACAGCCCTCATACCCATCTATAGATGAA TGGAGAAATATAATGTGGTCCAGCCACACAGTGGAATATTATACAGCCAT GAAAAGGAACAAGCAGCTTTATTCACAATAGCCAAGAGGTGGAGACAGCC CTCGTACCTATCTATAGATGAATGGAGAAATATAATGTGGTCCAGACACA CAGTGGAATATTATACAGCCATGAAAAGGAACAAGCAGCTTTATTCACAA TAGCCAAGAGGTGGAGACAGCCCTCATACCCCCATCTATAGATGAAGGGA GAAATATAATGTCCATCCACACAGTGGAATATTACACAGCCATGAAAAGG AACAAGCAGCTTTATTCACAATAGCCAAGAGGTGGAGACAGCCCTCATAC CCATCTATAGATGAATGGAAAAATATAATGTCCAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	113	0.0088	484	c.-39 others(501): Show c.-39+1005_-39+1006insCACAGCCATGAAAAGGAACAAGCAGCTT TATTCACAATAGCCAAGAGGTGGAGACAGCCCTCATACCCATCTATAGAT GAATGGAGAAATATAATGTGGTCCAGCCACACAGTGGAATATTATACAGC CATGAAAAGGAACAAGCAGCTTTATTCACAATAGCCAAGAGGTGGAGACA GCCCTCGTACCTATCTATAGATGAATGGAGAAATATAATGTGGTCCAGAC ACACAGTGGAATATTATACAGCCATGAAAAGGAACAAGCAGCTTTATTCA CAATAGCCAAGAGGTGGAGACAGCCCTCATACCCCCATCTATAGATGAAG GGAGAAATATAATGTCCATCCACACAGTGGAATATTACACAGCCATGAAA AGGAACAAGCAGCTTTATTCACAATAGCCAAGAGGTGGAGACAGCCCTCA TACCCATCTATAGATGAATGGAAAAATATAATGTCCATCCACACAGTGGA ATATTA	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAKMIP3_chr10_132060946_132189858	132173135	T T	TCCCCCTC others(477): Show TCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCTCTCTCC CCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCC CCTCCCCCTCCCCCCTCCCTCCCCCATCCCCTCCCCCCTCTCTCTCCCCC TCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCC CCTCCCCCTCCCCCTCCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCC TCCTTCCCTCTCCCCCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCC TCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTCCTTCCTCTGTCTCTCTCCCCCCCCCCTCCCTCT CTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0109 a0003c0002t0001g0109	1	151	0.0066	484	c.11 others(505): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCC TCCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTC CCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCCTCCCTCCCCCATCCCCTC CCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTC CCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCCATCCCCCTCCC CCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCCTCCTTCCCTC TCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCT CCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCTCTGTCTCTCT CCCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTC TCCCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173140	C C	CTCCCCCT others(477): Show CTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCT CCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCC CCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCC CCTCCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTCTCTCCCCCTCTCTG TCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCC CCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCC CTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTC TCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCT CCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCCTCCCTCTCTCTCTCT CCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0009	a0002c0010t0009g0089 a0002c0010t0009g0089	1	156	0.0064	484	c.11 others(505): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCC CCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCC CCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCC TCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCT CCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCC CCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCC CCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCC CCCTCCTTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(477): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGCATGTGTATTCATGT GTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTATGTGT GTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGTGTGC ATGTATGGGCATGTGTGTATACCTGTGTGTATGTGTATTTGTGTTGCATG TGTGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACG TGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATG TGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTG TGCATGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATGTG TGTGTACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACG TGTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG02559.hp2 others(1): Show HG01106.hp1 HG01243.hp1 HG02559.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 others(1): Show a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066	a0001c0001t0063g0172 a0001c0001t0064g0101 a0001c0001t0065g0126 others(1): Show a0001c0001t0063g0172 a0001c0001t0064g0101 a0001c0001t0065g0126 a0001c0001t0066g0149	4	29	0.1379	484	c.946 others(501): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACACATGCATACACATACACACAAGTACATAGACACATATATAC ACATGCACACATACACACATGCATACACATATGCACACACATACACACAT GCATACACATACACACATGCATACACGTGCACATGTAAATACACACGCAC AAATACACGTACACACAGGTATACACATGCACATGTAAATACACACACAT ATACACACATGCAACACAAATACACATACACACAGGTATACACACATGCC CATACATGCACACACATGCATACACATGCACACACAAATACATATACGTG TATACACACACATACATGCACGCACGTGCATACACATGCACACACAAATA TACACACACATGAATACACATGCACACATACACACACACACACACACACA CACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(477): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGCATGTGTATCCGT GTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTATGTGT GTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGTGTGC ATGTATGGGCATGTGTGTATACCTGTGTGTATGTGTATTTGTGTTGCATG TGTGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACG TGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATG TGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTG TGCATGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATGTG TGTGTACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACG TGTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18955.hp1 NA19011.hp2 HG02965.hp2 NA18955.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0177 a0001c0001t0182 a0001c0001t0183 a0001c0001t0177 a0001c0001t0182 a0001c0001t0183	a0001c0001t0177g0016 a0001c0001t0182g0080 a0001c0001t0183g0183 a0001c0001t0177g0016 a0001c0001t0182g0080 a0001c0001t0183g0183	3	28	0.1071	484	c.946 others(501): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACACATGCATACACATACACACAAGTACATAGACACATATATAC ACATGCACACATACACACATGCATACACATATGCACACACATACACACAT GCATACACATACACACATGCATACACGTGCACATGTAAATACACACGCAC AAATACACGTACACACAGGTATACACATGCACATGTAAATACACACACAT ATACACACATGCAACACAAATACACATACACACAGGTATACACACATGCC CATACATGCACACACATGCATACACATGCACACACAAATACATATACGTG TATACACACACATACATGCACGCACGTGCATACACATGCACACACAAATA TACACACACGGATACACATGCACACATACACACACACACACACACACACA CACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(477): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGCATGTGTATTCAT GTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTATGT GTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGTGT GCATGTATGGGCATGTGTGTATACCTGTGTGTATGTGTATTTGTGTTGCA TGTGTGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTA CGTGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTA TGTGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATG TGTGCATGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATG TGTGTACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACG TGTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0157 a0001c0002t0157	a0001c0002t0157g0089 a0001c0002t0157g0089	1	26	0.0385	484	c.946 others(501): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACACATATATACAC ATGCACACATACACACATGCATACACATATGCACACACATACACACATGC ATACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAA ATACACGTACACACAGGTATACACATGCACATGTAAATACACACACATAT ACACACATGCAACACAAATACACATACACACAGGTATACACACATGCCCA TACATGCACACACATGCATACACATGCACACACAAATACATATACGTGTA TACACACACATACATGCACGCACGTGCATACACATGCACACACAAATATA CACACACATGAATACACATGCACACATACACACACACACACACACACACA CACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(477): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGTGT ATCCATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCAT GTATGTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCAT GTGTGTGCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCA TGTGTGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTA CGTGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTA TGTGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATG TGTGCATGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATG TGTGTACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACG TGTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG02622.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0061 a0001c0002t0003g0158 a0001c0002t0003g0061 a0001c0002t0003g0158	2	27	0.0741	484	c.946 others(501): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACACATATATACAC ATGCACACATACACACATGCATACACATATGCACACACATACACACATGC ATACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAA ATACACGTACACACAGGTATACACATGCACATGTAAATACACACACATAT ACACACATGCAACACAAATACACACAGGTATACACACATGCCCATACATG CACACACATGCATACACATGCACACACAAATACATATACGTGTATACACA CACATACATGCACGCACGTGCATACACATGCACACACAAATATACACACA CATGGATACACATGCACACATATACACACACACACACACACACACACACA CACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(477): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCAT GTGTATCCATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGT GCATGTATGTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTAT GCATGTGTGTGCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGT TGCATGTGTGTATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTG TACGTGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTG TATGTGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTATG TGTGCATGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATG TGTGTACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACG TGTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0117 a0001c0003t0117	a0001c0003t0117g0065 a0001c0003t0117g0065	1	26	0.0385	484	c.946 others(501): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACACATATATACAC ATGCACACATACACATGCATACACATATGCACACACATACACACATGCAT ACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAAAT ACACGTACACACAGGTATACACATGCACATGTAAATACACACACATACAC ACATGCAACACAAATACACACAGGTATACACACATGCCCATACATGCACA CACATGCATACACATGCACACACAAATACATATACGTGTATACACACACA TACATGCACGCACGTGCATACACATGCACACACAAATATACACACACATG GATACACATGCACACATATACACACACACACACACACACACACACACACA CACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707712	A A	AGTGTGTG others(477): Show AGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGTGTATCCATGTG TGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTATGTGTG TGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGTGTGCA TGTATGGGCATGTGTGTATACCTGTGTGTATGTGTATTTGTGTTGCATGT GTGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACGT GTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATGT GTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTGT GCATGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATGTGT GTGTACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACGT GTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGGGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0185 a0001c0001t0185	a0001c0001t0185g0195 a0001c0001t0185g0195	1	172	0.0058	484	c.946 others(501): Show c.946+6498_946+6499insACCCCACACACACACACTCCTACACACA TACACACACGTGCATACACATGCACACACAAATACACACGTATACATACA TGTACACACACATGCATACACATACACACAAGTACATAGACACATATATA CACATGCACACATACACACATGCATACACATATGCACACACATACACACA TGCATACACATACACACATGCATACACGTGCACATGTAAATACACACGCA CAAATACACGTACACACAGGTATACACATGCACATGTAAATACACACACA TATACACACATGCAACACAAATACACATACACACAGGTATACACACATGC CCATACATGCACACACATGCATACACATGCACACACAAATACATATACGT GTATACACACACATACATGCACGCACGTGCATACACATGCACACACAAAT ATACACACACATGGATACACATGCACACATATACACACACACACACACAC ACACAC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GAGAAGGA others(477): Show GAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAG GGAGGGAAGGAGGGAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGA GGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAA AAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAA GGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGA ACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGAAGGAAGGAAGG AACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGG AAAAGGAGGGAGGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAA AGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGG AAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0057 a0001c0012t0001g0057	1	8	0.1250	484	c.507 others(503): Show c.5071+1912_5071+1913insAGAAGGATGAAGGGAGGAAGGAAGGA AGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGAGGTGGAAGGAAG GAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGA GAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAAC AAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAA AGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGG AAGGAGGGAGGAAGGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAG GAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAG GGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGA AGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAG GGAAAGGA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64			chr6	TogoVar
LINGO2_chr9_27932617_29218601	28189625	A A	AAGGAAGG others(477): Show AAGGAAGGAAGGGAGGGAAGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGAAGGGAGGGAAGAAGGAAGGGAGGGAGGGAGGAAGG AAGGGAGGGAAGAAGGAAGGGAGGGAGGGAAGAAGGAAGGGAGGGAGGGA GGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAAGAAGGAAGGGAGG GAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAA GGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGGGAGGAAGGAAGG AAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGGAGGGAGGAA GGAAGGAAGGAAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGG AAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAA GGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0003 a0001c0001t0006g0004	2	52	0.0385	484	c.-36 others(505): Show c.-36+105582_-36+105583insCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCT TCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTTCCTTCCTTCCTTCCTCC CTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTTCCTTCCTTCCT CCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCTTCCCTCCCTTCCTTCCTTCCTCCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTCCCTCCCTCCCTTCCTTC TTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTCCCTCCCTTCCT TCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCTTCCCTCC CTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMF1_chr16_848634_975984	961226	C C	CAGACTCA others(477): Show CAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACGGTGA CAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATC ACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGACA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGATC ACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACA CAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02738.hp2 HG03688.hp1 others(1): Show HG02004.hp1 HG02738.hp2 HG03688.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106	4	289	0.0138	484	c.194 others(501): Show c.194-6561_194-6560insCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCT GGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCTGGGTCGTGATCCCG TGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCTGG GTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCG TGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCT GGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCC CGTGCTGTCACCGTGAGTCTGTCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(477): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATTATATATTATATATAATATATA ATTATATATTATATATAATTATATAATATATAATTATATATTATATAATA ATATATAATTATATATTATATATAATATATAATTATATATTATATAATAA TATATAATTATTAATATATAATTATATATAATTATTAATATATAATTATA TATAATATATAATTATATATTATATAATAATATATAATTATATATTATAT ATAATTATATATTATATAATAACATATAATTATATATAATATATAAATAT ATAATATATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	57	0.0175	484	c.622 others(499): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATATAATTATATAATATATAATTATATATTATATAATAA TATATAATTATATATTATATATAATATATAATTATATATTATATAATAAT ATATAATTATTAATATATAATTATATATAATTATTAATATATAATTATAT ATAATATATAATTATATATTATATAATAATATATAATTATATATTATATA TAATTATATATTATATAATAACATATAATTATATATAATATATAAATATA TAATATATAAATATATAATATATAAATATATATAATATATAATTATATAT AATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAPKAP1_chr9_125432394_125712208	125547957	T T	TAAGAACT others(477): Show TAAGAACTTTTTGAGAACCAACCCAAATGTCCAACAATGATAGACTGGAT TAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA ATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAG CATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAGAGTATAATAAAAATAAATAAATAAATAAATAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	297	0.0034	484	c.849 others(501): Show c.849-4790_849-4789insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTATTTATTTATTTATTTATTTTTATTATACTCTAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCT CCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGT GTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACC TATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTAC TGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACAT TTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCTCAAAAA GTTCTT	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	6/11			chr9	TogoVar
MBD3L3_chr19_7051207_7063676	7061827	G G	GAATATAA others(477): Show GAATATAATTATATAATATATAATTATATTATATATTATATAATTATAAT ATAATTATATAATATAATTATATTATATATAATTATATAATATAATTATA TTATATATAATTATATAATATAATTATATTATATATAATTATATTAAACA CATTATATAATCTATAATTATATTATATATTATATAATCTATAATTATAT TATATATTATATAATATATAATTATGTTATATATTATAATACATTTAATA TAATTATATTATAGATTATAATCTATAATATAATTATATTAATAGTATTA TAATATATAATATATTATATATAATTATATTATAACTTATTATATATAAT TATATTATAGATCATAATCTATAATATAATTATATATAATATGTTATAAT ATATAATTATATTCTATATATAATTATATATAATATAATTATATTCTATA TATAATATAATTATATATAATTATATTCTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	239	0.0042	484	c.-32 others(495): Show c.-3223_-3222insATATATAGAATATAATTATATATAATTATATTAT ATATAGAATATAATTATATTATATATAATTATATATAGAATATAATTATA TATTATAACATATTATATATAATTATATTATAGATTATGATCTATAATAT AATTATATATAATAAGTTATAATATAATTATATATAATATATTATATATT ATAATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATT ATATTAAATGTATTATAATATATAACATAATTATATATTATATAATATAT AATATAATTATAGATTATATAATATATAATATAATTATAGATTATATAAT GTGTTTAATATAATTATATATAATATAATTATATTATATAATTATATATA ATATAATTATATTATATAATTATATATAATATAATTATATTATATAATTA TATTATAATTATATAATATATAATATAATTATATATTATATAATTATATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3152		chr19	TogoVar
MEGF6_chr1_3482951_3616508	3596616	T T	TGCGCCAT others(477): Show TGCGCCATCCCCTGCCCAGCCCCCGTCTCCACCCCAGGGCACCCCGCGCC ATCCCCTGCCAAGCCCCCATCTCCACCCCAGGGCACCCCGCGCCATCCCC TGCCCAGCCCCCGTCTCCACCCCAGGGCACCCTGCGCCATCCCCTGCCCA GCCCCCGTCTCCACCCCAGGGCACCCTGCGCCATCCCCTGCCCAGCCCCC GTCTCCACCCCAGGGCACCCCGCGCCATCCCCTGCCAAGCCCCCATCTCC ACCCCAGGGCACCCCGCGCCATCCCCTGCCCAGCCCCCGTCTCCACCCCA GGGCACCCCGCGCCATCCCCTGCCCAGCCCCCGTCTCCACCCCAGGGCAC CCTGCGCCATCCCCTGCCCAGACCCCGTCTCCACCCCAGGGCACCCCGCG CCATCCCCTGCCCAGCCCCCGTCTCCACCCCAGGGCACCCTGCGCCATCC CCTGCCCAGACCCCGTCTCCACCCCAGGGCACCCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0079 a0079	a0079c0113 a0079c0113	a0079c0113t0056 a0079c0113t0056	a0079c0113t0056g0279 a0079c0113t0056g0279	1	287	0.0035	484	c.267 others(501): Show c.267-1170_267-1169insGGGGTGCCCTGGGGTGGAGACGGGGTCT GGGCAGGGGATGGCGCAGGGTGCCCTGGGGTGGAGACGGGGGCTGGGCAG GGGATGGCGCGGGGTGCCCTGGGGTGGAGACGGGGTCTGGGCAGGGGATG GCGCAGGGTGCCCTGGGGTGGAGACGGGGGCTGGGCAGGGGATGGCGCGG GGTGCCCTGGGGTGGAGACGGGGGCTGGGCAGGGGATGGCGCGGGGTGCC CTGGGGTGGAGATGGGGGCTTGGCAGGGGATGGCGCGGGGTGCCCTGGGG TGGAGACGGGGGCTGGGCAGGGGATGGCGCAGGGTGCCCTGGGGTGGAGA CGGGGGCTGGGCAGGGGATGGCGCAGGGTGCCCTGGGGTGGAGACGGGGG CTGGGCAGGGGATGGCGCGGGGTGCCCTGGGGTGGAGATGGGGGCTTGGC AGGGGATGGCGCGGGGTGCCCTGGGGTGGAGACGGGGGCTGGGCAGGGGA TGGCGC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	2/36			chr1	TogoVar
MEX3D_chr19_1549672_1573325	1550131	C C	CCCACCCA others(477): Show CCCACCCATCCATCCATCCATCCACCCATCCATTCACTCACCTGCCCATC CACCCATCCATTCACTCACCTGCCCATCCACCCATCCATGCACTCACCTG CCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAATCATC CACCCACCCATCCATCCATCCATCCAACCATCCACCCACTCATCTATCCA TCCATCCATCCATCCATCCATCCATTTACCCACCCTCTCATCCATCCACC CACCCATCCACTTGTCCACCCATCCACCTGTTCACCCATCCACCCATCCA TCCATCCATCCAACCATCCACCCATCTATCCATCCATCCATCCAACCACT CATCCGTCCATCCATCCATCCATCCATCCATTTACCCACTCTCCCATCCA CCCACCCATCGACTTGTCCACCCATACACCTGTTCACCCATCCACCCATC CATCCATCCATCCATCCAACCATCCACCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02622.hp1 HG02630.hp1 others(2): Show HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG03209.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0003 a0001c0001t0001 a0005c0010t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0189 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0189 a0005c0010t0003g0134	5	249	0.0201	484	c.54 others(495): Show c.5431_*5432insATGGATGGGTGGATGGTTGGATGGATGGATGGAT GGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGG GTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGAT GAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGG ATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGT GGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGG ATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGT GGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG GCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGT GGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4540		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550131	C C	CCCACCCA others(477): Show CCCACCCATCCATCCATCCATCCACCCATCCATTCACTCACCTGCCCATC CACCCATCCATTCACTCACCTGCCCATCCACCCATCCATGCACTCACCTG CCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAT CATCCACCCACCCATCCATCCATCCATCCAACCATCCACCCACTCATCCA TCCATCCATCCATCCATCCATCCATTTACCCACCCTCTCATCCATCCACC CACCCATCCACTTGTCCACCCATCCACCTGTTCACCCATCCACCCATCCA TCCATCCATCCAACCATCCACCCATCTATCCATCCATCCATCCAACCACT CATCCGTCCATCCATCCATCCATCCATCCATTTACCCACTCTCCCATCCA CCCACCCATCGACTTGTCCACCCATACACCTGTTCACCCATCCACCCATC CATCCATCCATCCATCCAACCATCCACCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0194 a0001c0004t0001g0194	1	245	0.0041	484	c.54 others(495): Show c.5431_*5432insATGGATGGGTGGATGGTTGGATGGATGGATGGAT GGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGG GTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGAT GAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGG ATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGT GGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGG ATGGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGAT GATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG GCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGT GGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4540		chr19	TogoVar
MLPH_chr2_237482251_237560322	237544411	G G	GTGAGTGG others(477): Show GTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGC ACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGGG GGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGGACAGTGGTGAGT GGGGGACAGTAGTGAGTGGGGGCACAGTGGTGAGTGGGCACGGTGGTGAG TGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACA GTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGGTA CAGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0122 a0006c0006t0003g0122	1	279	0.0036	484	c.153 others(503): Show c.1539+1757_1539+1758insGGAGGGGACAGTGGTGAGTGGGGGGA CAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGC ACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGGG GGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGT CGGGGGACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGGCACAGTGGTG AGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACA GTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGA CAGTGGTGAGTGGGGGTACAGTGAGTGGGGACAGTGGTGAGTGGGGACAG TAATGAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(477): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0296 a0002c0002t0002g0296	1	168	0.0060	484	c.394 others(499): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar

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