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
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(307): Show TCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTTC CCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTTC CCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCCCTCCCT CCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCT ACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCC TCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCT TTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(139): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02080.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18985.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19011.hp2 NA19057.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0003t0001 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(136): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 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 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0148 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0114 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0224 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0007g0254 a0001c0001t0008g0261 a0001c0001t0011g0147 a0001c0001t0012g0016 a0001c0001t0013g0041 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0005t0001g0048 a0002c0002t0001g0010 a0002c0002t0001g0018	142	298	0.4765	314	c.52- others(329): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCCCTCCCC CCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCC TCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTC CCTCCTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTC CTTCCCTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTT TCTTCTTTCCTTCCTTCCTTCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(307): Show TCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTTC CCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTTC CCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCCCTCCCT CCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCT ACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCC TCTTCCTTCCTTTTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCT TTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp2 others(11): Show HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG01934.hp1 HG02074.hp2 HG02155.hp2 HG02602.hp2 NA18943.hp1 NA18953.hp2 NA18957.hp1 NA18998.hp1 NA19003.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0053 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065	14	298	0.0470	314	c.52- others(329): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCCCTCCCC CCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCC TCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTC CCTCCTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTC CTTCCCTCTTCCTTCCTTTTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTT TCTTCTTTCCTTCCTTCCTTCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MBNL2_chr13_97217333_97399120	97285762	T T	TTTATCAA others(307): Show TTTATCAACTGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0185 a0001c0001t0004g0185	1	254	0.0039	314	c.174 others(331): Show c.174+9365_174+9366insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTTATCAACTGCT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBP_chr18_76973833_77137783	77044931	G G	GCCGGGCG others(307): Show GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG04204.hp2 HG02015.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0047 a0001c0002t0006 a0001c0001t0047 a0001c0002t0006	a0001c0001t0047g0332 a0001c0002t0006g0288 a0001c0001t0047g0332 a0001c0002t0006g0288	2	396	0.0051	314	c.139 others(333): Show c.139+21366_139+21367insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77044931	G G	GCCGGGCG others(307): Show GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG03041.hp1 others(2): Show HG01891.hp1 HG02055.hp1 HG03041.hp1 HG03139.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0009 a0001c0001t0032 a0001c0001t0044 others(2): Show a0001c0001t0009 a0001c0001t0032 a0001c0001t0044 a0001c0002t0001 a0003c0004t0011	a0001c0001t0009g0215 a0001c0001t0032g0143 a0001c0001t0044g0305 others(2): Show a0001c0001t0009g0215 a0001c0001t0032g0143 a0001c0001t0044g0305 a0001c0002t0001g0162 a0003c0004t0011g0134	5	396	0.0126	314	c.139 others(333): Show c.139+21366_139+21367insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCACCCAGGTCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MCHR2_chr6_99913519_99999223	99959609	T T	TAAAACAA others(307): Show TAAAACAATACAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGCGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCTGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	316	0.0032	314	c.-27 others(331): Show c.-27-3436_-27-3435insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCCTGTATTGTTTT	MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	1/5			chr6	TogoVar
MCHR2_chr6_99913519_99999223	99959609	T T	TAAAACAA others(307): Show TAAAACAATACAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCTGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG03195.hp2 others(3): Show HG02145.hp1 HG02145.hp2 HG03195.hp2 HG03710.hp1 HG04115.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 others(2): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0028 a0001c0002t0006	a0001c0001t0006g0246 a0001c0001t0009g0074 a0001c0001t0011g0283 others(3): Show a0001c0001t0006g0246 a0001c0001t0009g0074 a0001c0001t0011g0283 a0001c0001t0028g0203 a0001c0002t0006g0183 a0001c0002t0006g0244	6	316	0.0190	314	c.-27 others(331): Show c.-27-3436_-27-3435insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCTGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCCTGTATTGTTTT	MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	1/5			chr6	TogoVar
MCHR2_chr6_99913519_99999223	99959609	T T	TAAAACAA others(307): Show TAAAACAATACAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCTGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01106.hp2 others(12): Show HG00438.hp1 HG00438.hp2 HG01106.hp2 HG01975.hp2 HG02135.hp1 HG02486.hp1 HG03017.hp1 HG03516.hp1 HG03927.hp2 HG06807.hp1 NA18979.hp2 NA18992.hp2 NA19012.hp2 NA19058.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0030 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0030 a0001c0001t0031	a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0102 others(12): Show a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0001g0199 a0001c0001t0005g0068 a0001c0001t0030g0231 a0001c0001t0031g0247	15	316	0.0475	314	c.-27 others(331): Show c.-27-3436_-27-3435insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCCTGTATTGTTTT	MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	1/5			chr6	TogoVar
MEGF6_chr1_3482951_3616508	3590825	A A	AGGGCCCT others(307): Show AGGGCCCTCTAAAGAGTGAGCGTCTGTCCTGCACAGGGCCCTCTAAAGAG TGAGCGTCTGTCCTGCACAGGGGCCGTGTAAAGAGTGAGCGTCTGTCCTG CACAGGGGCCCTCTAAAGAGTGAGCGTCTGTCCTGCACAGGGGCCGTGTA AAGAGTGAGCGTCTGTCCTGCACAGGGGCCCTCTAAAGAGTGAGCGTCTG TCCTGCACAGGGGCCGTGTAAAGAGTGAGCGTCTGTCCTGCACAGGGGCC CTCTAAAGAGTGAGCGTCTGTCCTGCACAGGGGCCGTGTAAAGAGTGAGC GTCTGTCCTGCACAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02602.hp2 NA18944.hp1 others(6): Show HG00323.hp1 HG02602.hp2 NA18944.hp1 NA18999.hp2 NA19007.hp2 NA19057.hp2 NA19065.hp1 NA19067.hp1 NA19091.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0011 a0014 a0016 a0096	a0001c0007 a0002c0002 a0004c0004 others(4): Show a0001c0007 a0002c0002 a0004c0004 a0011c0011 a0014c0012 a0016c0014 a0096c0059	a0001c0007t0020 a0002c0002t0001 a0004c0004t0021 others(4): Show a0001c0007t0020 a0002c0002t0001 a0004c0004t0021 a0011c0011t0001 a0014c0012t0002 a0016c0014t0001 a0096c0059t0003	a0001c0007t0020g0282 a0002c0002t0001g0082 a0004c0004t0021g0055 others(6): Show a0001c0007t0020g0282 a0002c0002t0001g0082 a0004c0004t0021g0055 a0011c0011t0001g0073 a0011c0011t0001g0084 a0014c0012t0002g0212 a0016c0014t0001g0080 a0016c0014t0001g0081 a0096c0059t0003g0085	9	292	0.0308	314	c.376 others(331): Show c.376+4512_376+4513insCTGTGCAGGACAGACGCTCACTCTTTAC ACGGCCCCTGTGCAGGACAGACGCTCACTCTTTAGAGGGCCCCTGTGCAG GACAGACGCTCACTCTTTACACGGCCCCTGTGCAGGACAGACGCTCACTC TTTAGAGGGCCCCTGTGCAGGACAGACGCTCACTCTTTACACGGCCCCTG TGCAGGACAGACGCTCACTCTTTAGAGGGCCCCTGTGCAGGACAGACGCT CACTCTTTACACGGCCCCTGTGCAGGACAGACGCTCACTCTTTAGAGGGC CCTGTGCAGGACAGACGCTCACTCTTTAGAGGGCCC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
METRNL_chr17_83074609_83100122	83090443	C C	CCCGCCCC others(307): Show CCCGCCCCACACACACACCCCCCGCCCCACACACACACACACCCCCCCCC ACACACACCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGC CCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACACCCCCGC CCCGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACACC CCCGCCCCACACACACACACCCCCGCCCCACACACACACACCCCCGCCCC GCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTG GGAGCCACACACACA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19055.hp1 NA18995.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	399	0.0050	314	c.557 others(331): Show c.557-2722_557-2721insGCCCCACACACACACCCCCCGCCCCACA CACACACACACCCCCCCCCACACACACCCCGCCCCGCCCCAGGGTGGGAG CCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCC CACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACCCC CGCCCCACACACACACACCCCCGCCCCACACACACACACCCCCGCCCCAC ACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCC CACCCCCCGCCCCAGGGTGGGAGCCACACACACACC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76952974	G G	GCTAATTT others(307): Show GCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGC TCTTTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTCAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01106.hp1 HG01978.hp1 others(3): Show HG01069.hp2 HG01106.hp1 HG01978.hp1 HG03540.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0056 others(1): Show a0001c0001 a0001c0005 a0001c0056 a0002c0002	a0001c0001t0008 a0001c0005t0008 a0001c0056t0008 others(2): Show a0001c0001t0008 a0001c0005t0008 a0001c0056t0008 a0002c0002t0008 a0002c0002t0018	a0001c0001t0008g0108 a0001c0005t0008g0265 a0001c0056t0008g0109 others(3): Show a0001c0001t0008g0108 a0001c0005t0008g0265 a0001c0056t0008g0109 a0002c0002t0008g0012 a0002c0002t0008g0047 a0002c0002t0018g0098	6	278	0.0216	314	c.41 others(325): Show c.4136_*4137insCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTTTTGCCCAGGCTGGAGTGCAGTGGCGCGATCT CTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding		2582		chr17	TogoVar
MLKL_chr16_74666855_74705862	74687794	A A	AAGTAGCT others(307): Show AAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCTGGCTATTTTTTTTT GCGATGGAGTCTTGCTCTGTCAAGCAGGCTGGAGTGCAGTGGCGTGATCT CAGGTCACTGCAAGCTCTGCCTCTCAGGTTCACACCATTCTCCTGCCTCA GCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCTGGCTATT TTTTTTTGCGATGGAGTCTTGCTCTGTCAAGCAGGCTGGAGTGCAGTGGC GTGATCTCAGGTCACTGCAAGCTCTGCCTCTCAGGTTCACACCATTCTCC TGCCTCAGCCTCCTG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	438	0.0023	314	c.723 others(331): Show c.723-2212_723-2211insCAGGAGGCTGAGGCAGGAGAATGGTGTG AACCTGAGAGGCAGAGCTTGCAGTGACCTGAGATCACGCCACTGCACTCC AGCCTGCTTGACAGAGCAAGACTCCATCGCAAAAAAAAATAGCCAGGCGT GGTGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAA TGGTGTGAACCTGAGAGGCAGAGCTTGCAGTGACCTGAGATCACGCCACT GCACTCCAGCCTGCTTGACAGAGCAAGACTCCATCGCAAAAAAAAATAGC CAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACT	MLKL	ENSG00000168404.13	transcript	ENST00000308807.12	protein_coding	4/10			chr16	TogoVar
MMP26_chr11_4699784_4997429	4902306	C C	CTAGAATT others(307): Show CTAGAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGACTACA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp2 HG02886.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0190 a0001c0001t0001g0064 a0001c0001t0001g0190	2	206	0.0097	314	c.-14 others(335): Show c.-144-85751_-144-85750insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGACTACATAGAATTTCTT	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MOB1A_chr2_74147528_74183879	74176275	C C	CAAAAAAA others(307): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGGCCAGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0220 a0001c0001t0018g0220	1	402	0.0025	314	c.14+ others(329): Show c.14+2385_14+2386insTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTTT	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MOB1A_chr2_74147528_74183879	74176275	C C	CAAAAAAA others(307): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0219 a0001c0001t0011g0219	1	402	0.0025	314	c.14+ others(329): Show c.14+2385_14+2386insTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTT	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MROH7_chr1_54636786_54715266	54698798	T T	TTTTTTTT others(307): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19088.hp2 NA19010.hp2 NA19088.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0279 a0015c0021t0001g0314 a0015c0021t0001g0279 a0015c0021t0001g0314	2	380	0.0053	314	c.296 others(333): Show c.2965-1510_2965-1509insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTCTTTTTTTTTTTTT	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL54_chr19_3757682_3772565	3762006	A A	AGACCCTG others(307): Show AGACCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATGTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	434	0.0023	314	c.-69 others(323): Show c.-695_-694insGACCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATGTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCC	MRPL54	ENSG00000183617.5	transcript	ENST00000330133.5	protein_coding		675		chr19	TogoVar
MRPS26_chr20_3041052_3053250	3053196	G G	GGTTTATT others(307): Show GGTTTATTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTCCTTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 NA18952.hp1 NA18980.hp2 others(2): Show HG02602.hp1 NA18952.hp1 NA18980.hp2 NA18989.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0002g0006 a0001c0001t0001g0006 a0001c0001t0002g0006	5	438	0.0114	314	c.53 others(325): Show c.5327_*5328insGTTTATTTATTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCCTTTTGT	MRPS26	ENSG00000125901.6	transcript	ENST00000380325.4	protein_coding		4947		chr20	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(307): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCG CCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	256	0.0039	314	c.241 others(333): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGG GCGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSH4_chr1_75791882_75918242	75805126	T T	TGACCTGT others(307): Show TGACCTGTTTATTTTTTATTTATTTTTTTTTTTGAGACGGAGTCTCGCTC TGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0159 a0003c0005t0001g0161 a0003c0005t0001g0159 a0003c0005t0001g0161	2	332	0.0060	314	c.427 others(331): Show c.427+1228_427+1229insTATTTATTTTTTTTTTTGAGACGGAGTC TCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAG CGTGAGCCACCGCGCCCGGCCGACCTGTTTATTTTT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75805126	T T	TGACCTGT others(307): Show TGACCTGTTTATTTTTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG01256.hp1 others(6): Show HG00280.hp1 HG00673.hp1 HG01256.hp1 HG02004.hp1 HG02109.hp2 HG02922.hp1 HG03195.hp2 HG03704.hp2 NA18964.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0158 a0003c0005t0001g0160 a0003c0005t0001g0162 others(6): Show a0003c0005t0001g0158 a0003c0005t0001g0160 a0003c0005t0001g0162 a0003c0005t0001g0163 a0003c0005t0001g0164 a0003c0005t0001g0165 a0003c0005t0001g0166 a0003c0005t0001g0167 a0003c0005t0001g0168	9	332	0.0271	314	c.427 others(331): Show c.427+1228_427+1229insTATTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAG CGTGAGCCACCGCGCCCGGCCGACCTGTTTATTTTT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767634	C C	CGCGTGGA others(307): Show CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGG GGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGC GTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGG GCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGG GGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGG GGCGTGTGGGGGGGT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	388	0.0052	314	c.159 others(331): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGG GGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGG CACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(307): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTATATATATTTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATTATATATATAAAATCTTATTTTATATATTATATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02965.hp2 NA20129.hp1 HG02004.hp2 HG02965.hp2 NA20129.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0019 a0001c0001 a0002c0002 a0010c0019	a0001c0001t0004 a0002c0002t0006 a0010c0019t0008 a0001c0001t0004 a0002c0002t0006 a0010c0019t0008	a0001c0001t0004g0024 a0002c0002t0006g0017 a0010c0019t0008g0018 a0001c0001t0004g0024 a0002c0002t0006g0017 a0010c0019t0008g0018	3	330	0.0091	314	c.-5+ others(329): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA TAATATATAAAATAAGATTTTATATATATAATATATAAAATAAGATTTTA TATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATAT AAAATAAGATTTTATATATATAAAAATATATATAAATATATATAAAATAA GATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAA TATATATAAAATAAGATTTTATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTMR7_chr8_17291794_17418351	17346658	T T	TAAAAAGG others(307): Show TAAAAAGGGAGTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG02723.hp1 others(5): Show HG01884.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG03486.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0002t0012 a0001c0010t0005 a0001c0002t0001 a0001c0002t0012 a0001c0010t0005	a0001c0002t0001g0008 a0001c0002t0001g0047 a0001c0002t0001g0048 others(5): Show a0001c0002t0001g0008 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0053 a0001c0002t0001g0100 a0001c0002t0012g0094 a0001c0010t0005g0093	8	360	0.0222	314	c.597 others(331): Show c.597+2294_597+2295insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGCAACTCCCTTTTT	MTMR7	ENSG00000003987.14	transcript	ENST00000180173.10	protein_coding	5/13			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588815	A A	ACATATAT others(307): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAT TCATATATATATGTTCATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATTCATATATATGTTCATATATATATTCATAT ATATGTTCATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03834.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp2	a0006 a0017 a0006 a0017	a0006c0006 a0017c0020 a0006c0006 a0017c0020	a0006c0006t0004 a0017c0020t0004 a0006c0006t0004 a0017c0020t0004	a0006c0006t0004g0008 a0017c0020t0004g0069 a0006c0006t0004g0008 a0017c0020t0004g0069	3	364	0.0082	314	c.394 others(329): Show c.394-819_394-818insGTTCATATATATACACACATATATATGTTC ATATATATATTCATATATATATGTTCATATATATTCATATATATGTTCAT ATATATATTCATATATATGTTCATATATATTCATATATATGTTCATATAT ATATTCATATATATGTTCATATATATTCATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(307): Show GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGT AGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGG TGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0205 a0001c0001t0005g0205	1	384	0.0026	314	c.160 others(331): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACTACCACCACGACTA CCACCACCACCACCACTACCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCACCA CCATCACCACCACCACCATCACCACCATCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(307): Show GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGCGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGT GGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGG TGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0060 a0002c0002t0060	a0002c0002t0060g0309 a0002c0002t0060g0309	1	384	0.0026	314	c.160 others(331): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCG CCACCACCACCATCACCACCACCACCATCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(307): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTA GTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGG TGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	384	0.0026	314	c.160 others(331): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCATCA CCACCATCACCACCACCACCATCACCACCACCACCACTACCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCACTACTGC CACCGCCGCCACCATCACCACCACCACCATCGCCGCCACCACCACCACCA CCACCATCACCACCATCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(307): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGC TCTGTCGCCCAGGCTGGAGCGCAGTGGCACGATCTCGACTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCGCGCCACCATGTCCGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0153	1	244	0.0041	314	c.286 others(335): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGACATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGTGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(307): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGC TCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGC TCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp2 HG03471.hp2 others(1): Show HG02258.hp2 HG02965.hp2 HG03471.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0003 a0001c0001t0035 a0001c0009t0016 others(1): Show a0001c0001t0003 a0001c0001t0035 a0001c0009t0016 a0002c0002t0006	a0001c0001t0003g0111 a0001c0001t0035g0163 a0001c0009t0016g0035 others(1): Show a0001c0001t0003g0111 a0001c0001t0035g0163 a0001c0009t0016g0035 a0002c0002t0006g0219	4	244	0.0164	314	c.286 others(335): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(307): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGC TCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCGCGCCACCATGTCCGGCTAACTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0007 a0001c0013t0007	a0001c0013t0007g0164 a0001c0013t0007g0164	1	244	0.0041	314	c.286 others(335): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAGTTAGCCGGACATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(307): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGC TCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCGCGCCACCATGTCCGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00639.hp2 others(53): Show HG00280.hp2 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG01074.hp2 HG01123.hp2 HG01358.hp1 HG01975.hp1 HG01978.hp1 HG02109.hp1 HG02135.hp1 HG02273.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02970.hp1 HG03041.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03654.hp2 HG03834.hp1 HG03927.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18950.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA19011.hp1 NA19043.hp1 NA19056.hp2 NA19081.hp2 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0041 a0001c0012t0001 a0002c0002t0007 a0003c0003t0006	a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0093 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0093 a0001c0001t0001g0103 a0001c0001t0001g0154 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0052 a0001c0001t0002g0082 a0001c0001t0002g0105 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0158 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0063 a0001c0001t0003g0099 a0001c0001t0003g0114 a0001c0001t0003g0126 a0001c0001t0003g0131 a0001c0001t0004g0212 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0222 a0001c0001t0004g0239 a0001c0001t0005g0008 a0001c0001t0005g0054 a0001c0001t0005g0070 a0001c0001t0005g0096 a0001c0001t0005g0098 a0001c0001t0005g0147 a0001c0001t0006g0169 a0001c0001t0006g0193 a0001c0001t0006g0201 a0001c0001t0006g0213 a0001c0001t0006g0226 a0001c0001t0007g0166 a0001c0001t0007g0171 a0001c0001t0007g0242 a0001c0001t0008g0216 a0001c0001t0008g0224 a0001c0001t0008g0228 a0001c0001t0008g0241 a0001c0001t0011g0049 a0001c0001t0011g0124 a0001c0001t0012g0053 a0001c0001t0013g0185 a0001c0001t0014g0057 a0001c0001t0020g0172 a0001c0001t0032g0117 a0001c0001t0033g0090 a0001c0001t0037g0168 a0001c0001t0041g0183 a0001c0012t0001g0074 a0002c0002t0007g0240 a0003c0003t0006g0202	56	244	0.2295	314	c.286 others(335): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGACATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYO1D_chr17_32487522_32882124	32780504	T T	TTTGGATT others(307): Show TTTGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp2 HG02559.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0125 a0001c0001t0011g0124 a0001c0001t0003g0125 a0001c0001t0011g0124	2	244	0.0082	314	c.304 others(327): Show c.304+71_304+72insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAGAATCCAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	2/21			chr17	TogoVar
MYT1_chr20_64159452_64247253	64201931	C C	CCGCGTGT others(307): Show CCGCGTGTCGGGAACCCCTCGCGTGTCGGGAACCCCCGCGTGTCGGGAAC CCCCGCGTGTCGGGAACCCCTCGCGTGTCGGGAACCCCCGCGTGTCGGGA ACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCTCGCGTGTCGG GAACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCCGCGTGTCG GGAACCCCTCGCGTGTCGGGAACCCCCCGCGTGTCGGGAACCCCCGCGTG TCGGGAACCCCTCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCTCGC GTGTCGGGAACCCCT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0104 a0001c0001t0025g0104	1	223	0.0045	314	c.86+ others(329): Show c.86+2024_86+2025insCCTCGCGTGTCGGGAACCCCCGCGTGTCGG GAACCCCCGCGTGTCGGGAACCCCTCGCGTGTCGGGAACCCCCGCGTGTC GGGAACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCTCGCGTG TCGGGAACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCCGCGT GTCGGGAACCCCTCGCGTGTCGGGAACCCCCCGCGTGTCGGGAACCCCCG CGTGTCGGGAACCCCTCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCC TCGCGTGTCGGGAACCCCTCGCGTGTCGGGAACC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64201931	C C	CTCGCGTG others(307): Show CTCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAAC CCCTCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGA ACCCCCGCGTGTCGGGAACCCCTCGCGTGTCGGGAACCCCCGCGTGTCGG GAACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCCGCGTGTCG GGAACCCCTCGCGTGTCGGGAACCCCCCGCGTGTCGGGAACCCCCGCGTG TCGGGAACCCCTCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCTCGC GTGTCGGGAACCCCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0067 a0001c0001t0016g0067	1	223	0.0045	314	c.86+ others(329): Show c.86+2009_86+2010insTCGCGTGTCGGGAACCCCCGCGTGTCGGGA ACCCCCGCGTGTCGGGAACCCCTCGCGTGTCGGGAACCCCCGCGTGTCGG GAACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCTCGCGTGTC GGGAACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCCGCGTGT CGGGAACCCCCGCGTGTCGGGAACCCCTCGCGTGTCGGGAACCCCCCGCG TGTCGGGAACCCCCGCGTGTCGGGAACCCCTCGCGTGTCGGGAACCCCCG CGTGTCGGGAACCCCTCGCGTGTCGGGAACCCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22			chr20	TogoVar
NBAS_chr2_15161916_15566334	15379415	T T	TAAGAAGC others(307): Show TAAGAAGCTGATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGGGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0181	1	224	0.0045	314	c.359 others(331): Show c.3590+186_3590+187insCTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCCCT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCCATCAGCTTCTT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	30/51			chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158667579	C C	CCTTACCG others(307): Show CCTTACCGACCCTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTAC CTACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTT CCTTACCGACCCTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	378	0.0027	314	c.148 others(333): Show c.1480-2830_1480-2829insAGGGCGGAGGGACCCAGTAGTGGGTA AGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGGGTCGGTAAGGAAGGCGGAGGG ACCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAGGGTAGGTAAGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGGGTCGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDST4_chr4_114822763_115118620	114947689	T T	TAATTTTG others(307): Show TAATTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp1 HG02897.hp2 others(1): Show HG02109.hp1 HG02896.hp1 HG02897.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0002c0007	a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0002c0007t0001	a0001c0002t0001g0165 a0001c0004t0001g0090 a0001c0005t0001g0084 others(1): Show a0001c0002t0001g0165 a0001c0004t0001g0090 a0001c0005t0001g0084 a0002c0007t0001g0158	4	190	0.0211	314	c.122 others(335): Show c.1222-10187_1222-10186insTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAAAATT	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	4/13			chr4	TogoVar
NDUFA9_chr12_4644114_4699317	4661708	A A	ACTAGAGT others(307): Show ACTAGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCG CTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0162 a0001c0001t0039g0162	1	362	0.0028	314	c.553 others(329): Show c.553-814_553-813insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTTTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTAGAGTTCTT	NDUFA9	ENSG00000139180.11	transcript	ENST00000266544.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NDUFB4_chr3_120591336_120607507	120600105	T T	TAAGGTTT others(307): Show TAAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01978.hp2 others(15): Show HG00621.hp1 HG00735.hp2 HG01978.hp2 HG02056.hp1 HG02135.hp1 HG02602.hp1 HG02683.hp1 HG03490.hp2 HG03704.hp2 NA18944.hp2 NA18947.hp1 NA18952.hp2 NA18966.hp1 NA18975.hp1 NA19006.hp1 NA19067.hp1 NA19083.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0005g0007 a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0005g0007	18	424	0.0425	314	c.181 others(329): Show c.181-991_181-990insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAAGGTTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFB4_chr3_120591336_120607507	120600105	T T	TAAGGTTT others(307): Show TAAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGTGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	424	0.0024	314	c.181 others(329): Show c.181-991_181-990insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGTGCCCGGCCAAGGTTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFB4_chr3_120591336_120607507	120600105	T T	TAAGGTTT others(307): Show TAAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	424	0.0024	314	c.181 others(329): Show c.181-991_181-990insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAAGGTTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFB4_chr3_120591336_120607507	120600109	G G	GTTTTTTT others(307): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC CCGCCCGGCCAAGGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02155.hp1 HG02040.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	424	0.0047	314	c.181 others(329): Show c.181-991_181-990insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCCCGCCCGGCCAAGGTTTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFB4_chr3_120591336_120607507	120600109	G G	GTTTTTTT others(307): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCAAGGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01175.hp2 others(9): Show HG00609.hp1 HG00609.hp2 HG01175.hp2 HG01496.hp2 HG02027.hp1 HG02040.hp2 HG03831.hp2 NA18940.hp1 NA18953.hp1 NA18970.hp2 NA18988.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0042 a0001c0001t0001g0009 a0001c0001t0001g0042	12	424	0.0283	314	c.181 others(329): Show c.181-991_181-990insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAAGGTTTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFS6_chr5_1796407_1821048	1812526	T T	TGACTCCT others(307): Show TGACTCCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	444	0.0023	314	c.187 others(331): Show c.187-1801_187-1800insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGACTCCTCTTTT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEFM_chr8_24908761_24924093	24921587	T T	TAAGAACA others(307): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	314	c.29 others(325): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding		2495		chr8	TogoVar
NEK11_chr3_131021877_131355465	131282270	T T	TTAGTCTG others(307): Show TTAGTCTGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0166 a0006c0009t0001g0166	1	292	0.0034	314	c.171 others(333): Show c.1718+8708_1718+8709insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT TTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCTAGTCTGGCATT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NELL2_chr12_44503278_44881315	44737351	T T	TCAATAAC others(307): Show TCAATAACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	158	0.0063	314	c.995 others(333): Show c.995-22611_995-22610insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGTTATTG	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	9/19			chr12	TogoVar
NEU4_chr2_241804193_241822413	241807988	G G	GCCCAGAG others(307): Show GCCCAGAGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACTCTCCCTCCCC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCC TCCCTCCCTCCTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	319	0.0031	314	c.-12 others(325): Show c.-1290_-1289insCCCAGAGACCTCCGCAGGCCACTCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGG CCACTCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAACCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCT GCAGGCCACCCTCCCTCCCTCCCTCCTCAA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1204		chr2	TogoVar
NEU4_chr2_241804193_241822413	241808012	T T	TTCCCTCC others(307): Show TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGAT GTCTGCAGGCCACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	319	0.0031	314	c.-12 others(325): Show c.-1266_-1265insTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTC CCTCAGCCCAGGGATGTCTGCAGGCCACTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1180		chr2	TogoVar

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